Main table

Gene Name	Disease Name	Disease ID	Database
LGALS2	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	608446	OMIM
VSX1	KERATOCONUS	PS148300	ClinVar, OMIM, HUMSAVAR
LRP4	SCLEROSTEOSIS	PS269500	ClinVar, OMIM, HUMSAVAR
PEX6	PEROXISOME BIOGENESIS DISORDER	PS214100	ClinVar, OMIM, HUMSAVAR
ICR1	BECKWITH-WIEDEMANN SYNDROME	130650	OMIM
FBLN5	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA	219100	ClinVar, OMIM, HUMSAVAR
FAT3	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
SRD5A3	KAHRIZI SYNDROME	612713	ClinVar, OMIM
LMNA	RESTRICTIVE DERMOPATHY, LETHAL	275210	OMIM
DMD	MUSCULAR DYSTROPHY, BECKER TYPE	300376	ClinVar, OMIM, HUMSAVAR
SDHC	CARNEY TRIAD	604287	ClinVar
CFP	PROPERDIN DEFICIENCY, X-LINKED	312060	ClinVar, OMIM, HUMSAVAR
KRT1	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC	600962	ClinVar, OMIM, HUMSAVAR
ECM1	LIPOID PROTEINOSIS OF URBACH AND WIETHE	247100	ClinVar, OMIM, HUMSAVAR
UCHL1	NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD-ONSET	615491	ClinVar, OMIM, HUMSAVAR
CEL	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION	609812	OMIM
SIX3	SCHIZENCEPHALY	269160	OMIM, HUMSAVAR
ABCC9	CANTU SYNDROME	239850	OMIM, HUMSAVAR
CDHR1	RETINITIS PIGMENTOSA	PS268000	OMIM, HUMSAVAR
GMPPB	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B	PS613155	ClinVar, OMIM, HUMSAVAR
SPINK5	ASTHMA, SUSCEPTIBILITY TO	600807	ClinVar
SCN9A	SEIZURES, FAMILIAL FEBRILE	PS121210	ClinVar, OMIM, HUMSAVAR
ESR1	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1	157300	OMIM
ZIC3	HETEROTAXY, VISCERAL	PS306955	ClinVar, OMIM, HUMSAVAR
FTH1	HEMOCHROMATOSIS	PS235200	ClinVar, OMIM
TGFBI	CORNEAL DYSTROPHY, LATTICE TYPE I	122200	ClinVar, OMIM, HUMSAVAR
SLC25A32	EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE	616839	ClinVar, OMIM
FEZF1	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	OMIM, HUMSAVAR
MS4A2	IGE RESPONSIVENESS, ATOPIC	147050	OMIM
ABCB4	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3	602347	ClinVar, OMIM, HUMSAVAR
PSMC3IP	OVARIAN DYSGENESIS	PS233300	OMIM
GDAP1	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
EARS2	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
ACTN2	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
HOXD13	BRACHYDACTYLY-SYNDACTYLY SYNDROME	610713	OMIM
PAX1	OTOFACIOCERVICAL SYNDROME	PS166780	ClinVar, OMIM, HUMSAVAR
RSPH3	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
CEP152	SECKEL SYNDROME	PS210600	ClinVar, OMIM, HUMSAVAR
TTC8	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM
ASCC1	BARRETT ESOPHAGUS	614266	OMIM
WAS	NEUTROPENIA, SEVERE CONGENITAL	PS202700	ClinVar, OMIM, HUMSAVAR
GRHL2	ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME	616029	ClinVar, OMIM, HUMSAVAR
MTUS1	HEPATOCELLULAR CARCINOMA	114550	HUMSAVAR
DNAJB6	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT	PS159000	ClinVar, OMIM, HUMSAVAR
MYO1E	FOCAL SEGMENTAL GLOMERULOSCLEROSIS	PS603278	ClinVar, OMIM, HUMSAVAR
AMACR	ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY	614307	ClinVar, OMIM, HUMSAVAR
APOPT1	MITOCHONDRIAL COMPLEX IV DEFICIENCY	220110	OMIM
DLL3	SPONDYLOCOSTAL DYSOSTOSIS	PS277300	ClinVar, OMIM, HUMSAVAR
TUSC3	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM
ACAN	SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE	608361	ClinVar, OMIM
CRLF1	COLD-INDUCED SWEATING SYNDROME	PS272430	ClinVar, OMIM, HUMSAVAR
LPP	LEUKEMIA, ACUTE MYELOID	601626	OMIM
NIPBL	CORNELIA DE LANGE SYNDROME	PS122470	ClinVar, OMIM, HUMSAVAR
PPIB	OSTEOGENESIS IMPERFECTA	PS166200	ClinVar, OMIM, HUMSAVAR
AP4M1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
COMP	EPIPHYSEAL DYSPLASIA, MULTIPLE	PS132400	ClinVar, OMIM, HUMSAVAR
ORC6	MEIER-GORLIN SYNDROME	PS224690	ClinVar, OMIM, HUMSAVAR
ZC4H2	WIEACKER-WOLFF SYNDROME	314580	ClinVar, OMIM, HUMSAVAR
RIMS1	CONE-ROD DYSTROPHY 7	603649	ClinVar, OMIM, HUMSAVAR
TDP1	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY	607250	ClinVar, OMIM, HUMSAVAR
CD44	NEPHROLITHIASIS, CALCIUM OXALATE	167030	ClinVar
MIR184	EDICT SYNDROME	614303	ClinVar, OMIM
INPP5E	JOUBERT SYNDROME	PS213300	ClinVar, OMIM, HUMSAVAR
NECTIN4	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME	PS613573	ClinVar, OMIM, HUMSAVAR
OPA1	GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO	606657	ClinVar, OMIM
HNF4A	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM, HUMSAVAR
DNM2	LETHAL CONGENITAL CONTRACTURE SYNDROME	PS253310	ClinVar, OMIM, HUMSAVAR
COL4A1	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS	611773	ClinVar, OMIM, HUMSAVAR
BRAF	LEOPARD SYNDROME	PS151100	ClinVar, OMIM, HUMSAVAR
SLC26A5	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
SCN5A	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	603829	ClinVar, OMIM, HUMSAVAR
RETN	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM
POGLUT1	RETICULATE PIGMENT DISORDERS	PS179850	ClinVar, OMIM
GDF5	BRACHYDACTYLY, TYPE A1, C	615072	ClinVar, OMIM, HUMSAVAR
NEFH	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	OMIM
RUNX1	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY	601399	ClinVar, OMIM, HUMSAVAR
FCGR2A	CYSTIC FIBROSIS	219700	OMIM
STX11	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4	603552	ClinVar, OMIM
IL2RG	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED	300400	ClinVar, OMIM, HUMSAVAR
ADAM10	RETICULATE PIGMENT DISORDERS	PS179850	OMIM, HUMSAVAR
GBA	PARKINSON DISEASE	PS168600	ClinVar, OMIM
MT-CO1	MYOGLOBINURIA, RECURRENT	550500	OMIM
PDE4D	ACRODYSOSTOSIS	PS101800	ClinVar, OMIM, HUMSAVAR
EVC2	SHORT-RIB THORACIC DYSPLASIA	PS208500	ClinVar, OMIM, HUMSAVAR
DLG3	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM
ISPD	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	PS236670	ClinVar, OMIM, HUMSAVAR
KRT14	EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1	601001	ClinVar, OMIM, HUMSAVAR
NARS2	LEIGH SYNDROME	256000	HUMSAVAR
CACNA1F	NIGHT BLINDNESS, CONGENITAL STATIONARY	PS310500	ClinVar, OMIM, HUMSAVAR
ABCC9	ATRIAL FIBRILLATION, FAMILIAL	PS608583	ClinVar, OMIM, HUMSAVAR
ITGA8	RENAL HYPODYSPLASIA/APLASIA 1	191830	ClinVar, OMIM, HUMSAVAR
GJB2	DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES	124500	ClinVar, OMIM, HUMSAVAR
MYH3	ARTHROGRYPOSIS, DISTAL, TYPE 2B	601680	ClinVar, OMIM, HUMSAVAR
IGF2R	HEPATOCELLULAR CARCINOMA	114550	ClinVar, OMIM
PLCD1	NAIL DISORDER, NONSYNDROMIC CONGENITAL	PS161050	ClinVar, OMIM, HUMSAVAR
MC4R	OBESITY	601665	OMIM, HUMSAVAR
FUS	TREMOR, HEREDITARY ESSENTIAL	PS190300	ClinVar, OMIM, HUMSAVAR
NDUFAF4	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM, HUMSAVAR
GATA1	THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED	314050	ClinVar, OMIM, HUMSAVAR
PDE6C	CONE DYSTROPHY 4	613093	ClinVar, OMIM, HUMSAVAR
PPARG	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	OMIM
GCK	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2	125851	ClinVar, OMIM, HUMSAVAR
CRYBB2	CATARACT	PS116200	ClinVar, OMIM
G6PD	FAVISM, SUSCEPTIBILITY TO	134700	OMIM
XPA	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A	278700	ClinVar, OMIM, HUMSAVAR
HTR2A	MAJOR DEPRESSIVE DISORDER	608516	OMIM
CISH	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	607948	OMIM
PIK3CA	MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME	602501	ClinVar, OMIM, HUMSAVAR
EIF2B4	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	603896	ClinVar, OMIM, HUMSAVAR
TRPS1	TRICHORHINOPHALANGEAL SYNDROME, TYPE III	190351	ClinVar, OMIM, HUMSAVAR
RLBP1	NEWFOUNDLAND ROD-CONE DYSTROPHY	607476	ClinVar, OMIM
TNF	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
TNFRSF11A	OSTEOPETROSIS, AUTOSOMAL RECESSIVE	PS259700	ClinVar, OMIM, HUMSAVAR
ELANE	NEUTROPENIA, SEVERE CONGENITAL	PS202700	ClinVar, OMIM, HUMSAVAR
C6	COMPLEMENT COMPONENT 6 DEFICIENCY	612446	ClinVar, OMIM
KMT2A	CORNELIA DE LANGE SYNDROME	PS122470	ClinVar
C2	MACULAR DEGENERATION, AGE-RELATED	PS603075	ClinVar, OMIM
IRF5	RHEUMATOID ARTHRITIS	180300	ClinVar
MED23	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM, HUMSAVAR
SERPIND1	THROMBOPHILIA	PS188050	ClinVar, OMIM, HUMSAVAR
NDUFA10	LEIGH SYNDROME	256000	OMIM
SLC10A2	BILE ACID MALABSORPTION, PRIMARY	613291	ClinVar, OMIM, HUMSAVAR
DIAPH3	AUDITORY NEUROPATHY	PS609129	ClinVar, OMIM
UBE3A	ANGELMAN SYNDROME	105830	ClinVar, OMIM
LIFR	STUVE-WIEDEMANN SYNDROME	601559	ClinVar, OMIM, HUMSAVAR
RAI1	SMITH-MAGENIS SYNDROME	182290	ClinVar, OMIM
SNTA1	CARDIAC ARRHYTHMIA	115000	ClinVar
FBN1	STIFF SKIN SYNDROME	184900	ClinVar, OMIM, HUMSAVAR
PRNP	GERSTMANN-STRAUSSLER DISEASE	137440	ClinVar, OMIM, HUMSAVAR
EPOR	ERYTHROLEUKEMIA, FAMILIAL	133180	ClinVar
APOE	LIPOPROTEIN GLOMERULOPATHY	611771	ClinVar, OMIM, HUMSAVAR
GALNT14	HYDROPS FETALIS, NONIMMUNE	236750	ClinVar
ANK2	LONG QT SYNDROME	PS192500	ClinVar, OMIM, HUMSAVAR
SMARCAD1	ADERMATOGLYPHIA	136000	ClinVar, OMIM
KRT9	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC	144200	ClinVar, OMIM, HUMSAVAR
CHAT	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
DCDC2	NEPHRONOPHTHISIS	PS256100	ClinVar, OMIM
PLS3	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18	300910	ClinVar, OMIM
ASXL3	BAINBRIDGE-ROPERS SYNDROME	615485	ClinVar, OMIM
LMNA	CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM	212112	OMIM, HUMSAVAR
PPT1	CEROID LIPOFUSCINOSES	PS256730	ClinVar, OMIM, HUMSAVAR
GJA1	OCULODENTODIGITAL DYSPLASIA	164200	ClinVar, OMIM, HUMSAVAR
PITX3	CATARACT	PS116200	OMIM, HUMSAVAR
MVK	POROKERATOSIS	PS175800	ClinVar, OMIM, HUMSAVAR
RAG2	OMENN SYNDROME	603554	OMIM, HUMSAVAR
PMP22	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES	162500	ClinVar, OMIM, HUMSAVAR
PKD2	POLYCYSTIC KIDNEY DISEASE 2	613095	ClinVar, OMIM, HUMSAVAR
SLC39A5	MYOPIA	PS160700	ClinVar, OMIM, HUMSAVAR
NTRK1	THYROID CARCINOMA, FAMILIAL MEDULLARY	155240	ClinVar, OMIM
ATM	ATAXIA-TELANGIECTASIA	208900	ClinVar, OMIM, HUMSAVAR
DPH1	DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR	616901	ClinVar, OMIM
PLEC	EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY	616487	ClinVar, OMIM
PRCC	RENAL CELL CARCINOMA, PAPILLARY, 1	605074	OMIM
NR3C2	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	177735	ClinVar, OMIM, HUMSAVAR
MYH7	SCAPULOPERONEAL MYOPATHY, MYH7-RELATED	181430	ClinVar, OMIM, HUMSAVAR
EIF4A3	ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES	268305	ClinVar, OMIM, HUMSAVAR
KRAS	NOONAN SYNDROME	PS163950	ClinVar, OMIM, HUMSAVAR
FLRT3	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
TCAP	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM
NT5C3A	URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	266120	ClinVar, OMIM, HUMSAVAR
POLG	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	607459	ClinVar, OMIM, HUMSAVAR
ADAMTS10	WEILL-MARCHESANI SYNDROME	PS277600	ClinVar, OMIM, HUMSAVAR
MCM4	NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT	609981	ClinVar, OMIM
CFB	HEMOLYTIC UREMIC SYNDROME	PS235400	ClinVar, OMIM, HUMSAVAR
IRF8	IMMUNODEFICIENCY 32A	614893	ClinVar, OMIM, HUMSAVAR
UCHL1	PARKINSON DISEASE	PS168600	ClinVar, OMIM, HUMSAVAR
LTBP3	DENTAL ANOMALIES AND SHORT STATURE	601216	ClinVar, OMIM
HBG1	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1	141749	ClinVar, OMIM
IER3IP1	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME	614231	ClinVar, OMIM, HUMSAVAR
FGFR3	CERVICAL CANCER	603956	OMIM, HUMSAVAR
WHSC1L1	LEUKEMIA, ACUTE MYELOID	601626	OMIM
HK1	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM
CD2AP	FOCAL SEGMENTAL GLOMERULOSCLEROSIS	PS603278	OMIM
LDHA	GLYCOGEN STORAGE DISEASE XI	612933	ClinVar, OMIM
PRPF6	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
CTLA4	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V	616100	ClinVar, OMIM, HUMSAVAR
UROC1	UROCANASE DEFICIENCY	276880	ClinVar, OMIM, HUMSAVAR
EHHADH	FANCONI RENOTUBULAR SYNDROME	PS134600	ClinVar, OMIM, HUMSAVAR
PTF1A	PANCREATIC AND CEREBELLAR AGENESIS	609069	ClinVar, OMIM
GHR	HYPERCHOLESTEROLEMIA, FAMILIAL	143890	ClinVar, OMIM
FOXI1	PENDRED SYNDROME	274600	ClinVar
POMT2	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
MPDZ	HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2	615219	ClinVar, OMIM
SCYL1	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21	616719	OMIM
CFI	MACULAR DEGENERATION, AGE-RELATED	PS603075	OMIM, HUMSAVAR
C1QB	C1Q DEFICIENCY	613652	ClinVar, OMIM, HUMSAVAR
CTSC	PERIODONTITIS, AGGRESSIVE, 1	170650	ClinVar, OMIM, HUMSAVAR
C10orf2	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	607459	ClinVar, HUMSAVAR
VWF	VON WILLEBRAND DISEASE, TYPE 2	613554	ClinVar, OMIM, HUMSAVAR
SLC25A3	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY	610773	ClinVar, OMIM, HUMSAVAR
SEPT9	OVARIAN CANCER	167000	OMIM
EPHX1	PREECLAMPSIA/ECLAMPSIA	PS189800	OMIM
ATRX	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1	309580	ClinVar, OMIM, HUMSAVAR
FOXC2	LYMPHEDEMA-DISTICHIASIS SYNDROME	153400	OMIM, HUMSAVAR
USH2A	USHER SYNDROME	PS276900	ClinVar, OMIM, HUMSAVAR
SLC4A11	CORNEAL ENDOTHELIAL DYSTROPHY	217700	OMIM, HUMSAVAR
DUOXA2	THYROID DYSHORMONOGENESIS 5	274900	ClinVar, OMIM
SPAG1	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
MKS1	MECKEL SYNDROME	PS249000	ClinVar, OMIM
MLC1	LEUKOENCEPHALOPATHY, MEGALENCEPHALIC	PS604004	ClinVar, OMIM, HUMSAVAR
TPP1	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7	609270	ClinVar, OMIM, HUMSAVAR
ARG1	ARGININEMIA	207800	OMIM, HUMSAVAR
KIAA0196	RITSCHER-SCHINZEL SYNDROME	PS220210	ClinVar, OMIM
MAGT1	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA	300853	ClinVar, OMIM
RECQL4	ROTHMUND-THOMSON SYNDROME	268400	ClinVar, OMIM
CHCHD10	SPINAL MUSCULAR ATROPHY, JOKELA TYPE	615048	ClinVar, OMIM, HUMSAVAR
FGG	AFIBRINOGENEMIA, CONGENITAL	202400	OMIM, HUMSAVAR
MEFV	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT	134610	ClinVar, OMIM, HUMSAVAR
PPARG	CAROTID INTIMAL MEDIAL THICKNESS 1	609338	OMIM
CD209	DENGUE VIRUS, SUSCEPTIBILITY TO	614371	OMIM
PRICKLE2	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	607459	ClinVar, HUMSAVAR
BBS10	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM, HUMSAVAR
PLN	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
TWIST1	ROBINOW-SORAUF SYNDROME	180750	OMIM
PHKG2	GLYCOGEN STORAGE DISEASE IXC	613027	ClinVar, OMIM, HUMSAVAR
ANKS6	NEPHRONOPHTHISIS	PS256100	ClinVar, OMIM, HUMSAVAR
XRCC3	BREAST CANCER	114480	OMIM
CHCHD2	PARKINSON DISEASE	PS168600	ClinVar, OMIM
TMEM70	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2	614052	ClinVar, OMIM, HUMSAVAR
RPS17	DIAMOND-BLACKFAN ANEMIA	PS105650	ClinVar, OMIM
PTPN11	METACHONDROMATOSIS	156250	ClinVar, OMIM
HIBCH	3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY	250620	ClinVar, OMIM, HUMSAVAR
ATPAF2	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1	604273	ClinVar, OMIM, HUMSAVAR
LMNA	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
PLIN1	LIPODYSTROPHY, FAMILIAL PARTIAL	PS151660	ClinVar, OMIM
DOK7	FETAL AKINESIA DEFORMATION SEQUENCE	208150	ClinVar, OMIM
ABCC8	HYPERINSULINEMIA HYPOGLYCEMIA	PS256450	ClinVar, OMIM, HUMSAVAR
EFEMP2	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA	219100	ClinVar
GLB1	GM1-GANGLIOSIDOSIS, TYPE I	230500	ClinVar, OMIM, HUMSAVAR
LAMA3	LARYNGOONYCHOCUTANEOUS SYNDROME	245660	OMIM
MYLK	AORTIC ANEURYSM, FAMILIAL THORACIC	PS607086	ClinVar, OMIM, HUMSAVAR
COL27A1	STEEL SYNDROME	615155	ClinVar, OMIM, HUMSAVAR
EPHB2	PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY	603688	ClinVar, OMIM
FAM65B	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
ABCB6	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA	PS300345	ClinVar, OMIM, HUMSAVAR
ACAD8	ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY	611283	ClinVar, OMIM, HUMSAVAR
KIAA2022	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM
SH3TC2	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
PGAP2	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME	PS239300	ClinVar, OMIM, HUMSAVAR
TANGO2	CARDIAC ARRHYTHMIA	115000	ClinVar
SMN2	SPINAL MUSCULAR ATROPHY, TYPE III	253400	OMIM
POLD1	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10	612591	ClinVar, OMIM, HUMSAVAR
MAP3K8	LUNG CANCER	211980	OMIM
CBFB	LEUKEMIA, ACUTE MYELOID	601626	OMIM
ADCK4	NEPHROTIC SYNDROME	PS256300	ClinVar, OMIM, HUMSAVAR
MT-ND3	LEBER OPTIC ATROPHY AND DYSTONIA	500001	OMIM
EDC3	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	OMIM, HUMSAVAR
HADHB	MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY	609015	ClinVar, OMIM, HUMSAVAR
GHSR	GROWTH HORMONE INSENSITIVITY, PARTIAL	604271	ClinVar
TSHB	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS	PS275200	ClinVar, OMIM
NDUFAF3	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM, HUMSAVAR
KIRREL3	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
G6PD	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
GJB2	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS	148350	OMIM, HUMSAVAR
MYH14	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
RHBDF2	TYLOSIS WITH ESOPHAGEAL CANCER	148500	ClinVar, OMIM, HUMSAVAR
CLCN5	NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE	310468	OMIM, HUMSAVAR
BLK	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11	613375	ClinVar, OMIM
ETHE1	ENCEPHALOPATHY, ETHYLMALONIC	602473	ClinVar, OMIM, HUMSAVAR
FOLR1	GASTROINTESTINAL STROMAL TUMOR	606764	ClinVar
CCDC65	PRIMARY CILIARY DYSKINESIA	PS244400	OMIM
BLOC1S3	HERMANSKY-PUDLAK SYNDROME	PS203300	OMIM
TMEM173	STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET	615934	ClinVar, OMIM, HUMSAVAR
LMOD3	NEMALINE MYOPATHY	PS161800	ClinVar, OMIM, HUMSAVAR
PPP2R1A	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
PRKAG2	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
CYP2B6	EFAVIRENZ, POOR METABOLISM OF	614546	OMIM
NDUFS3	LEIGH SYNDROME	256000	OMIM
HNRNPA2B1	INCLUSION BODY MYOPATHY/PAGET DISEASE/FRONTOTEMPORAL DEMENTIA	PS167320	ClinVar, OMIM, HUMSAVAR
CRADD	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM, HUMSAVAR
EDNRB	HIRSCHSPRUNG DISEASE	PS142623	ClinVar, OMIM, HUMSAVAR
POF1B	PREMATURE OVARIAN FAILURE 2B	300604	ClinVar, OMIM, HUMSAVAR
GUCY2C	DIARRHEA, CONGENITAL	PS214700	ClinVar, OMIM, HUMSAVAR
EVC	WEYERS ACROFACIAL DYSOSTOSIS	193530	ClinVar, OMIM, HUMSAVAR
EFHC1	EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1	607631	ClinVar, OMIM
GRIN2B	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
CLN8	CEROID LIPOFUSCINOSES	PS256730	ClinVar, OMIM, HUMSAVAR
CYP24A1	HYPERCALCEMIA, INFANTILE	PS143880	OMIM, HUMSAVAR
CPT1A	CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY	255120	OMIM, HUMSAVAR
TSEN54	PONTOCEREBELLAR HYPOPLASIA	PS607596	ClinVar, OMIM, HUMSAVAR
ACE	HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO	614519	OMIM
CLCN5	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	308990	OMIM, HUMSAVAR
ABCC8	DIABETES MELLITUS, PERMANENT NEONATAL	606176	ClinVar, OMIM, HUMSAVAR
ASCC1	SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES	PS616866	ClinVar, OMIM
CPT2	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	255110	ClinVar, OMIM, HUMSAVAR
GHRL	OBESITY	601665	OMIM
ATP1A3	ALTERNATING HEMIPLEGIA OF CHILDHOOD	PS104290	ClinVar, OMIM, HUMSAVAR
KCNE3	CARDIAC ARRHYTHMIA	115000	ClinVar
CD209	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	ClinVar, OMIM
CARS2	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
MT-CYB	DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY	520100	OMIM
ERCC6	DE SANCTIS-CACCHIONE SYNDROME	278800	OMIM
TNPO3	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT	PS159000	ClinVar, OMIM, HUMSAVAR
SLC1A1	SCHIZOPHRENIA 18	615232	OMIM
UCP3	OBESITY	601665	OMIM, HUMSAVAR
TGFBR2	ESOPHAGEAL CANCER	133239	OMIM, HUMSAVAR
LRP4	CENANI-LENZ SYNDACTYLY SYNDROME	212780	ClinVar, OMIM, HUMSAVAR
RHCE	BLOOD GROUP--RHESUS SYSTEM E POLYPEPTIDE	111690	OMIM
ALDH1A3	MICROPHTHALMIA, ISOLATED	PS251600	ClinVar, OMIM, HUMSAVAR
BBS2	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
CHEK2	OSTEOGENIC SARCOMA	259500	ClinVar, OMIM
PIK3CA	COLORECTAL CANCER	114500	OMIM, HUMSAVAR
FRMD7	NYSTAGMUS, CONGENITAL	PS310700	ClinVar, OMIM, HUMSAVAR
CTPS1	IMMUNODEFICIENCY 24	615897	ClinVar, OMIM
TP53	COLORECTAL CANCER	114500	ClinVar, OMIM
ERCC1	CEREBROOCULOFACIOSKELETAL SYNDROME	PS214150	ClinVar, OMIM, HUMSAVAR
SLC27A4	ICHTHYOSIS PREMATURITY SYNDROME	608649	ClinVar, OMIM, HUMSAVAR
GABRA2	ALCOHOL DEPENDENCE	103780	OMIM
CIDEC	LIPODYSTROPHY, FAMILIAL PARTIAL	PS151660	ClinVar, OMIM
GYG1	GLYCOGEN STORAGE DISEASE XV	613507	ClinVar, OMIM, HUMSAVAR
VDR	OSTEOPOROSIS	166710	OMIM
APOE	MAJOR DEPRESSIVE DISORDER	608516	ClinVar
FTL	L-FERRITIN DEFICIENCY	615604	ClinVar, OMIM
CACNB4	EPISODIC ATAXIA	PS160120	ClinVar, OMIM, HUMSAVAR
TRMU	LIVER FAILURE, INFANTILE, TRANSIENT	613070	ClinVar, OMIM, HUMSAVAR
KCNH2	CARDIAC ARRHYTHMIA	115000	ClinVar
NOTCH1	MARFAN SYNDROME	154700	ClinVar
LTBP2	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT	129600	ClinVar
SLC25A15	HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME	238970	ClinVar, OMIM, HUMSAVAR
COG7	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	ClinVar, OMIM
BAG3	MYOFIBRILLAR MYOPATHY	PS601419	ClinVar, OMIM, HUMSAVAR
PHKA1	GLYCOGEN STORAGE DISEASE, TYPE IXD	300559	ClinVar, OMIM, HUMSAVAR
IGLL1	AGAMMAGLOBULINEMIA	PS601495	ClinVar, OMIM, HUMSAVAR
SRY	46,XX SEX REVERSAL 1	400045	OMIM
PDE6B	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
TEAD1	SVEINSSON CHORIORETINAL ATROPHY	108985	OMIM, HUMSAVAR
SIX5	BRANCHIOOTORENAL SYNDROME 2	610896	ClinVar, OMIM, HUMSAVAR
SIGMAR1	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
GPX1	GLUTATHIONE PEROXIDASE DEFICIENCY	614164	OMIM
C2CD3	OROFACIODIGITAL SYNDROME XIV	615948	ClinVar, OMIM, HUMSAVAR
SLC39A13	SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE	612350	ClinVar, OMIM
NDUFAF2	LEIGH SYNDROME	256000	OMIM
ANKRD11	KBG SYNDROME	148050	ClinVar, OMIM
ABCD3	BILE ACID SYNTHESIS DEFECT, CONGENITAL	PS607765	OMIM
ZHX2	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
KCNE1	CARDIAC ARRHYTHMIA	115000	ClinVar
THRB	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	188570	ClinVar, OMIM, HUMSAVAR
PTF1A	PANCREATIC AGENESIS	PS260370	OMIM
KRT1	ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE	146590	OMIM
NDUFV1	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM, HUMSAVAR
LMBR1	ACHEIROPODY	200500	OMIM
EBP	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT	302960	ClinVar, OMIM, HUMSAVAR
PSEN1	FRONTOTEMPORAL DEMENTIA	600274	ClinVar, OMIM, HUMSAVAR
PAH	PHENYLKETONURIA	261600	ClinVar, OMIM, HUMSAVAR
FOXRED1	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM, HUMSAVAR
PRICKLE1	EPILEPSY, PROGRESSIVE MYOCLONIC	PS254800	ClinVar, OMIM, HUMSAVAR
HFE2	HEMOCHROMATOSIS	PS235200	ClinVar, OMIM, HUMSAVAR
BRF1	CEREBELLOFACIODENTAL SYNDROME	616202	ClinVar, OMIM, HUMSAVAR
TRAPPC11	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
PDE6D	JOUBERT SYNDROME	PS213300	ClinVar, OMIM
GLI2	CULLER-JONES SYNDROME	615849	OMIM, HUMSAVAR
GDF6	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA	PS300345	ClinVar, OMIM
CASP8	CASPASE 8 DEFICIENCY	607271	ClinVar, OMIM, HUMSAVAR
EPAS1	ERYTHROCYTOSIS, FAMILIAL	PS133100	ClinVar, OMIM, HUMSAVAR
COX15	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar
BHLHE41	SHORT SLEEPER	612975	ClinVar, OMIM
ACTB	BARAITSER-WINTER SYNDROME	PS243310	ClinVar, OMIM, HUMSAVAR
SEPN1	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	255310	ClinVar, OMIM
HDAC8	CORNELIA DE LANGE SYNDROME	PS122470	ClinVar, OMIM, HUMSAVAR
TRPM4	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	PS604772	ClinVar
IFIH1	AICARDI-GOUTIERES SYNDROME	PS225750	ClinVar, OMIM, HUMSAVAR
COL2A1	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA	183900	ClinVar, OMIM, HUMSAVAR
ZNF711	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM
HCCS	MICROPHTHALMIA, SYNDROMIC	PS309800	ClinVar, OMIM, HUMSAVAR
MAPT	SUPRANUCLEAR PALSY, PROGRESSIVE, 1	601104	ClinVar, OMIM, HUMSAVAR
C12orf57	TEMTAMY SYNDROME	218340	ClinVar, OMIM, HUMSAVAR
MOCS1	MOLYBDENUM COFACTOR DEFICIENCY	PS252150	ClinVar, OMIM, HUMSAVAR
DNMT3B	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES	PS242860	ClinVar, OMIM, HUMSAVAR
SCARB1	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6	610762	ClinVar, OMIM
COL7A1	EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL	131850	ClinVar, OMIM, HUMSAVAR
BIN1	MYOPATHY, CENTRONUCLEAR	PS160150	ClinVar, OMIM, HUMSAVAR
CYP7B1	BILE ACID SYNTHESIS DEFECT, CONGENITAL	PS607765	ClinVar, OMIM
MOG	NARCOLEPSY	PS161400	ClinVar, OMIM, HUMSAVAR
CHEK2	LI-FRAUMENI SYNDROME	PS151623	ClinVar, OMIM, HUMSAVAR
RFX5	BARE LYMPHOCYTE SYNDROME, TYPE II	209920	OMIM, HUMSAVAR
ARHGAP31	ADAMS-OLIVER SYNDROME	PS100300	ClinVar, OMIM
TBK1	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
XYLT1	PSEUDOXANTHOMA ELASTICUM	264800	OMIM, HUMSAVAR
CLMP	CONGENITAL SHORT BOWEL SYNDROME	615237	ClinVar, OMIM, HUMSAVAR
CYP26B1	RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES	614416	ClinVar, OMIM, HUMSAVAR
RBM28	ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME	612079	ClinVar, OMIM, HUMSAVAR
LIPI	HYPERTRIGLYCERIDEMIA, FAMILIAL	145750	OMIM, HUMSAVAR
UGT2B17	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12	612560	OMIM
PIGN	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME	PS614080	ClinVar, OMIM, HUMSAVAR
HOXA11	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA	PS605432	OMIM
IRF7	IMMUNODEFICIENCY 39	616345	ClinVar, OMIM, HUMSAVAR
FCGR2B	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
RARS	LEUKODYSTROPHY, HYPOMYELINATING	PS312080	ClinVar, OMIM, HUMSAVAR
PER2	ADVANCED SLEEP PHASE SYNDROME	PS604348	ClinVar, OMIM, HUMSAVAR
GDF6	KLIPPEL-FEIL SYNDROME	PS118100	ClinVar, OMIM, HUMSAVAR
NOTCH1	HEART, MALFORMATION OF	140500	ClinVar
OTC	ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO	311250	ClinVar, OMIM, HUMSAVAR
SCN1A	MIGRAINE, FAMILIAL HEMIPLEGIC, 3	609634	ClinVar, OMIM, HUMSAVAR
KBTBD13	NEMALINE MYOPATHY	PS161800	ClinVar, OMIM, HUMSAVAR
FCGR2A	SYSTEMIC LUPUS ERYTHEMATOSUS	152700	OMIM
F10	FACTOR X DEFICIENCY	227600	ClinVar, OMIM, HUMSAVAR
APOA1	HYPOALPHALIPOPROTEINEMIA, PRIMARY	604091	ClinVar, OMIM
NF1	WATSON SYNDROME	193520	ClinVar, OMIM
CNGB1	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
FSHB	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
AQP5	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE	600231	ClinVar, OMIM, HUMSAVAR
SPATA5	EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME	616577	ClinVar, OMIM, HUMSAVAR
KRT14	NAEGELI SYNDROME	161000	OMIM
FLG	ICHTHYOSIS VULGARIS	146700	OMIM
CYP2A6	LUNG CANCER	211980	OMIM
F9	HEMOPHILIA B	306900	ClinVar, OMIM, HUMSAVAR
LARS2	PERRAULT SYNDROME	PS233400	ClinVar, OMIM, HUMSAVAR
KRT12	CORNEAL DYSTROPHY, MEESMANN	122100	ClinVar, OMIM, HUMSAVAR
SHOX	SHORT STATURE, IDIOPATHIC, X-LINKED	300582	ClinVar, OMIM
EPHX1	HYPERCHOLANEMIA, FAMILIAL	607748	ClinVar, OMIM
ZBTB42	LETHAL CONGENITAL CONTRACTURE SYNDROME	PS253310	ClinVar, OMIM, HUMSAVAR
DLX5	SPLIT-HAND/FOOT MALFORMATION	PS183600	ClinVar, OMIM, HUMSAVAR
ASS1	CITRULLINEMIA, CLASSIC	215700	ClinVar, OMIM, HUMSAVAR
RP2	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
ANK3	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM
KRT16	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1	613000	ClinVar, OMIM, HUMSAVAR
BEST1	VITREORETINOCHOROIDOPATHY	193220	ClinVar, OMIM, HUMSAVAR
SCN4A	MYOTONIA, POTASSIUM-AGGRAVATED	608390	ClinVar, OMIM, HUMSAVAR
KCNQ2	SEIZURES, BENIGN FAMILIAL NEONATAL	PS121200	ClinVar, OMIM, HUMSAVAR
NPHP3	NEPHRONOPHTHISIS	PS256100	ClinVar, OMIM, HUMSAVAR
AK1	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	612631	OMIM, HUMSAVAR
GABRG2	SEIZURES, FAMILIAL FEBRILE	PS121210	ClinVar, OMIM, HUMSAVAR
TUBB2B	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7	610031	ClinVar, OMIM, HUMSAVAR
CPT1C	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
LRRC8A	AGAMMAGLOBULINEMIA	PS601495	OMIM
STAT1	FAMILIAL CANDIDIASIS	PS114580	ClinVar, OMIM, HUMSAVAR
CIITA	BARE LYMPHOCYTE SYNDROME, TYPE II	209920	OMIM, HUMSAVAR
NOS3	HYPERTENSION, ESSENTIAL	145500	OMIM
RBBP8	PANCREATIC CANCER	260350	ClinVar, OMIM
CHM	CHOROIDEREMIA	303100	ClinVar, OMIM, HUMSAVAR
BRCA2	BREAST CANCER	114480	OMIM, HUMSAVAR
MSR1	PROSTATE CANCER	176807	OMIM
MT-TE	MITOCHONDRIAL MYOPATHY WITH DIABETES	500002	OMIM
MYPN	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
CXCL12	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	ClinVar, OMIM
PTH1R	FAILURE OF TOOTH ERUPTION, PRIMARY	125350	ClinVar, OMIM
FGFR3	BLADDER CANCER	109800	OMIM, HUMSAVAR
PNPT1	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
RET	PHEOCHROMOCYTOMA	171300	OMIM, HUMSAVAR
IFITM5	OSTEOGENESIS IMPERFECTA	PS166200	ClinVar, OMIM, HUMSAVAR
GNRH1	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM
KAT6B	OHDO SYNDROME, SBBYS VARIANT	603736	ClinVar, OMIM
BDNF	OBSESSIVE-COMPULSIVE DISORDER	164230	OMIM
MICU1	MYOPATHY WITH EXTRAPYRAMIDAL SIGNS	615673	ClinVar, OMIM
CRYAA	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
FH	FUMARASE DEFICIENCY	606812	ClinVar, OMIM, HUMSAVAR
CHN1	DUANE RETRACTION SYNDROME	PS126800	ClinVar, OMIM, HUMSAVAR
DHH	46,XY SEX REVERSAL	PS400044	OMIM, HUMSAVAR
AKT1	COWDEN DISEASE	PS158350	ClinVar, OMIM, HUMSAVAR
NIPAL4	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE	PS242300	ClinVar, OMIM, HUMSAVAR
SHH	HOLOPROSENCEPHALY	PS236100	ClinVar, OMIM, HUMSAVAR
POMGNT1	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
SLC17A9	POROKERATOSIS	PS175800	ClinVar, OMIM, HUMSAVAR
RNF216	GORDON HOLMES SYNDROME	212840	ClinVar, OMIM, HUMSAVAR
FBN1	MARFAN SYNDROME	154700	ClinVar, OMIM, HUMSAVAR
C3	HEMOLYTIC UREMIC SYNDROME	PS235400	ClinVar, OMIM, HUMSAVAR
NDUFA2	LEIGH SYNDROME	256000	OMIM
KCNA1	EPISODIC ATAXIA	PS160120	ClinVar, OMIM, HUMSAVAR
SCN5A	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	PS604772	ClinVar
SAG	NIGHT BLINDNESS, CONGENITAL STATIONARY	PS310500	ClinVar, OMIM
KRT1	ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS	607602	ClinVar, OMIM, HUMSAVAR
DSC3	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES	613102	OMIM
ESR1	ESTROGEN RESISTANCE	615363	ClinVar, OMIM, HUMSAVAR
FOXF1	PYLORIC STENOSIS, INFANTILE HYPERTROPHIC	PS179010	ClinVar
CFHR5	CFHR5 DEFICIENCY	614809	OMIM
FZD4	EXUDATIVE VITREORETINOPATHY	PS133780	ClinVar, OMIM, HUMSAVAR
P2RX1	BLEEDING DISORDER, PLATELET-TYPE	PS231200	OMIM
PRPF31	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
GATA2	LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA	614038	ClinVar, OMIM, HUMSAVAR
GPR143	NYSTAGMUS, CONGENITAL	PS310700	ClinVar, OMIM, HUMSAVAR
SERPINE1	PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY	613329	ClinVar, OMIM
CASP10	LYMPHOMA, NON-HODGKIN, FAMILIAL	605027	ClinVar, OMIM, HUMSAVAR
XPC	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	278720	ClinVar, OMIM, HUMSAVAR
SMPD1	NIEMANN-PICK DISEASE, TYPE B	607616	OMIM, HUMSAVAR
ECE1	HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION	613870	OMIM, HUMSAVAR
CYP19A1	AROMATASE EXCESS SYNDROME	139300	ClinVar, OMIM
LAMTOR2	IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN	610798	OMIM
KEL	BLOOD GROUP--KELL SYSTEM	110900	OMIM
SMAD3	LOEYS-DIETZ SYNDROME	PS609192	ClinVar, OMIM, HUMSAVAR
DCLRE1C	OMENN SYNDROME	603554	OMIM, HUMSAVAR
CR2	IMMUNODEFICIENCY, COMMON VARIABLE	PS607594	ClinVar, OMIM
ADCY1	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
LMNA	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
NR0B1	46,XY SEX REVERSAL	PS400044	ClinVar, OMIM
USP8	PITUITARY ADENOMA, ACTH-SECRETING	219090	ClinVar
EPO	MICROVASCULAR COMPLICATIONS OF DIABETES	PS603933	ClinVar, OMIM
MT-TT	MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE	551000	OMIM
NOTCH1	AORTIC VALVE DISEASE	PS109730	ClinVar, OMIM
LTBP2	MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA	251750	ClinVar, OMIM
MC3R	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9	602025	ClinVar, OMIM
ADD1	HYPERTENSION, ESSENTIAL	145500	OMIM
SPTBN2	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
BFSP2	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
DES	DIAPHRAGMATIC HERNIA, CONGENITAL	142340	ClinVar
CKAP2L	FILIPPI SYNDROME	272440	ClinVar, OMIM
CEP290	MECKEL SYNDROME	PS249000	ClinVar, OMIM
MTNR1B	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	OMIM
MARVELD2	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
TMC6	EPIDERMODYSPLASIA VERRUCIFORMIS	226400	ClinVar, OMIM
BAG3	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
ABCA7	ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO	608907	ClinVar, OMIM
CALM1	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	PS604772	ClinVar, OMIM, HUMSAVAR
COL11A1	FIBROCHONDROGENESIS	PS228520	ClinVar, OMIM, HUMSAVAR
COA5	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 3	616500	ClinVar, OMIM, HUMSAVAR
C2	COMPLEMENT COMPONENT 2 DEFICIENCY	217000	OMIM, HUMSAVAR
MT-ND4	LEBER OPTIC ATROPHY AND DYSTONIA	500001	OMIM, HUMSAVAR
POLG	LEIGH SYNDROME	256000	HUMSAVAR
HBA1	HEINZ BODY ANEMIAS	140700	OMIM
LTBP2	GLAUCOMA 3, PRIMARY CONGENITAL, D	613086	ClinVar, OMIM
MT-ND1	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	HUMSAVAR
CDK4	MELANOMA, CUTANEOUS MALIGNANT	PS155600	ClinVar, OMIM, HUMSAVAR
CRYBA4	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
IMPDH1	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM, HUMSAVAR
ADRB2	OBESITY	601665	OMIM
CHMP2B	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
LMNB1	LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT	169500	ClinVar, OMIM
PIEZO1	LYMPHEDEMA, HEREDITARY, III	616843	ClinVar, OMIM
RDH11	RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME	616108	ClinVar, OMIM
TBC1D24	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
ANGPTL4	PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS	615881	ClinVar, OMIM
MYH9	EPSTEIN SYNDROME	153650	ClinVar, OMIM, HUMSAVAR
TPK1	THIAMINE-RESPONSIVE DYSFUNCTION SYNDROME	PS249270	ClinVar, OMIM, HUMSAVAR
PRKDC	IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES	615966	ClinVar, OMIM, HUMSAVAR
TPM2	ARTHROGRYPOSIS, DISTAL, TYPE 1A	108120	ClinVar, OMIM, HUMSAVAR
SURF1	LEIGH SYNDROME	256000	ClinVar, OMIM, HUMSAVAR
POR	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	201750	ClinVar, OMIM, HUMSAVAR
CACNA1A	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
HTR2A	SCHIZOPHRENIA	181500	OMIM
ACADVL	ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF	201475	ClinVar, OMIM, HUMSAVAR
ALDH7A1	EPILEPSY, PYRIDOXINE-DEPENDENT	266100	ClinVar, OMIM, HUMSAVAR
CLN3	CEROID LIPOFUSCINOSES	PS256730	ClinVar, OMIM, HUMSAVAR
GLB1	GM1-GANGLIOSIDOSIS, TYPE III	230650	ClinVar, OMIM, HUMSAVAR
DCC	MIRROR MOVEMENTS	PS157600	ClinVar, OMIM
POMK	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	PS236670	ClinVar, OMIM, HUMSAVAR
ANKH	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	123000	ClinVar, OMIM, HUMSAVAR
ACE	MICROVASCULAR COMPLICATIONS OF DIABETES	PS603933	OMIM
OFD1	JOUBERT SYNDROME	PS213300	ClinVar, OMIM
THAP1	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
NEK8	RENAL-HEPATIC-PANCREATIC DYSPLASIA	PS208540	ClinVar, OMIM
ITPR3	DIABETES MELLITUS, INSULIN-DEPENDENT	222100	OMIM
RPIA	RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY	608611	OMIM, HUMSAVAR
ATP2C1	BENIGN CHRONIC PEMPHIGUS	169600	ClinVar, OMIM, HUMSAVAR
CTNS	CYSTINOSIS, NEPHROPATHIC	219800	ClinVar, OMIM, HUMSAVAR
EFEMP1	DOYNE HONEYCOMB RETINAL DYSTROPHY	126600	ClinVar, OMIM, HUMSAVAR
GATAD2B	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
RARA	ACUTE PROMYELOCYTIC LEUKEMIA	612376	OMIM
OFD1	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM
YARS2	MYOPATHY, LACTIC ACIDOSIS, AND SIDERBLASTIC ANEMIA	PS600462	ClinVar, OMIM, HUMSAVAR
GDF1	TETRALOGY OF FALLOT	187500	ClinVar, OMIM, HUMSAVAR
MYH11	VISCERAL MYOPATHY	155310	ClinVar
FOXE3	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS	107250	ClinVar, OMIM, HUMSAVAR
KLKB1	PREKALLIKREIN DEFICIENCY	612423	ClinVar, OMIM, HUMSAVAR
SCN5A	ATRIAL FIBRILLATION, FAMILIAL	PS608583	ClinVar, OMIM, HUMSAVAR
TP63	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	604292	ClinVar, OMIM, HUMSAVAR
ZIC1	CRANIOSYNOSTOSIS 6	616602	OMIM
MVK	HYPER-IGD SYNDROME	260920	ClinVar, OMIM, HUMSAVAR
CYP4V2	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY	210370	ClinVar, OMIM, HUMSAVAR
JAM3	HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS	613730	ClinVar, OMIM, HUMSAVAR
ITPA	INOSINE TRIPHOSPHATASE DEFICIENCY	613850	ClinVar, OMIM, HUMSAVAR
KYNU	HYDROXYKYNURENINURIA	236800	OMIM, HUMSAVAR
ZNF365	NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO	605990	ClinVar, OMIM
CAPN3	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
PDE6G	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM
SERPINB7	PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE	615598	ClinVar, OMIM
F8	FACTOR VIII DEFICIENCY	134500	ClinVar
IFNGR1	IMMUNODEFICIENCY 27B	615978	OMIM
LHB	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
APRT	ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY	614723	ClinVar, OMIM, HUMSAVAR
CST3	MACULAR DEGENERATION, AGE-RELATED	PS603075	ClinVar, OMIM, HUMSAVAR
ZNF81	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
INSR	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, HUMSAVAR
PAX6	FOVEAL HYPOPLASIA	PS136520	ClinVar, OMIM, HUMSAVAR
STAR	LIPOID CONGENITAL ADRENAL HYPERPLASIA	201710	ClinVar, OMIM, HUMSAVAR
KITLG	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	OMIM
RBBP8	JAWAD SYNDROME	251255	OMIM
MUC1	MEDULLARY CYSTIC KIDNEY DISEASE 1	174000	OMIM
NKX2-1	CHOREA, BENIGN HEREDITARY	118700	ClinVar, OMIM, HUMSAVAR
GCNT2	CATARACT	PS116200	OMIM, HUMSAVAR
SH2B3	THROMBOCYTHEMIA	PS187950	ClinVar, OMIM
NEU1	NEURAMINIDASE DEFICIENCY	256550	ClinVar, OMIM, HUMSAVAR
EVC2	WEYERS ACROFACIAL DYSOSTOSIS	193530	ClinVar, OMIM
SLC22A5	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	212140	ClinVar, OMIM, HUMSAVAR
SLC24A1	NIGHT BLINDNESS, CONGENITAL STATIONARY	PS310500	OMIM
MYCN	FEINGOLD SYNDROME	PS164280	ClinVar, OMIM, HUMSAVAR
UNC119	IMMUNODEFICIENCY 13	615518	ClinVar, OMIM, HUMSAVAR
LOR	VOHWINKEL SYNDROME, VARIANT FORM	604117	OMIM
HPCA	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
MSX2	CRANIOSYNOSTOSIS 2	604757	ClinVar, OMIM, HUMSAVAR
CTNNB1	HEPATOCELLULAR CARCINOMA	114550	ClinVar, OMIM
CYGB	RETINITIS PIGMENTOSA	PS268000	ClinVar
UBE2T	FANCONI ANEMIA	PS227650	ClinVar, OMIM, HUMSAVAR
MDM2	ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO	614401	ClinVar, OMIM
SIX3	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	147250	ClinVar
ZNF469	KERATOCONUS	PS148300	ClinVar
GPR143	ALBINISM, OCULAR, TYPE I	300500	ClinVar, OMIM, HUMSAVAR
ALX4	CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO	615529	ClinVar, OMIM, HUMSAVAR
PTDSS1	LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM	151050	ClinVar, OMIM, HUMSAVAR
SLC24A5	OCULOCUTANEOUS ALBINISM	PS203100	ClinVar, OMIM
CDKN2A	MELANOMA, CUTANEOUS MALIGNANT	PS155600	ClinVar, OMIM, HUMSAVAR
ANLN	FOCAL SEGMENTAL GLOMERULOSCLEROSIS	PS603278	ClinVar, OMIM, HUMSAVAR
NDP	NORRIE DISEASE	310600	ClinVar, OMIM, HUMSAVAR
KRT5	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION	131960	ClinVar, OMIM, HUMSAVAR
CRX	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM, HUMSAVAR
RAPSN	FETAL AKINESIA DEFORMATION SEQUENCE	208150	ClinVar, OMIM, HUMSAVAR
ALX1	FRONTONASAL DYSPLASIA	PS136760	ClinVar, OMIM
KRT5	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA	609352	OMIM
NNT	GLUCOCORTICOID DEFICIENCY	PS202200	ClinVar, OMIM, HUMSAVAR
FHL1	SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	300695	ClinVar, OMIM, HUMSAVAR
RYR2	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	PS107970	ClinVar, OMIM, HUMSAVAR
DSP	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	PS604772	ClinVar
VAMP1	SPASTIC ATAXIA	PS108600	ClinVar, OMIM
IDUA	MUCOPOLYSACCHARIDOSES	PS607014	ClinVar, OMIM, HUMSAVAR
MYO5B	DIARRHEA, CONGENITAL	PS214700	ClinVar, OMIM, HUMSAVAR
PITX3	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS	107250	ClinVar, OMIM
GOSR2	EPILEPSY, PROGRESSIVE MYOCLONIC	PS254800	ClinVar, OMIM, HUMSAVAR
PAX4	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM, HUMSAVAR
IMPG2	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM
TUB	RETINAL DYSTROPHY AND OBESITY	616188	OMIM
SEPT12	SPERMATOGENIC FAILURE	PS258150	ClinVar, OMIM, HUMSAVAR
WDR19	CRANIOECTODERMAL DYSPLASIA	PS218330	ClinVar, OMIM, HUMSAVAR
DOK7	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
ASCL1	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	209880	ClinVar, OMIM
BTK	AGAMMAGLOBULINEMIA	PS601495	ClinVar, OMIM, HUMSAVAR
COL11A2	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
CACNA1H	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6	611942	ClinVar, OMIM, HUMSAVAR
ALX4	FRONTONASAL DYSPLASIA	PS136760	ClinVar, OMIM
ALG3	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
RB1	SMALL CELL CANCER OF THE LUNG	182280	ClinVar, OMIM
TGM5	PEELING SKIN SYNDROME	PS270300	ClinVar, OMIM, HUMSAVAR
ASAH1	FARBER LIPOGRANULOMATOSIS	228000	ClinVar, OMIM, HUMSAVAR
CAMTA1	CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION	614756	ClinVar, OMIM
AKT1	SCHIZOPHRENIA	181500	OMIM
GNRHR	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
GDNF	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	209880	ClinVar, OMIM
RBMX	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	OMIM
EDN3	HIRSCHSPRUNG DISEASE	PS142623	ClinVar, OMIM, HUMSAVAR
FANCF	FANCONI ANEMIA	PS227650	OMIM
DFNB59	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
LRP5	POLYCYSTIC LIVER DISEASE	PS174050	ClinVar
ABCB4	GALLBLADDER DISEASE	PS600803	ClinVar, OMIM, HUMSAVAR
MNX1	CURRARINO SYNDROME	176450	OMIM, HUMSAVAR
WDR60	SHORT-RIB THORACIC DYSPLASIA	PS208500	ClinVar, OMIM, HUMSAVAR
CDH3	ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME	225280	ClinVar, OMIM, HUMSAVAR
PLEC	EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA	612138	ClinVar, OMIM
ZAK	SPLIT-HAND/FOOT MALFORMATION	PS183600	ClinVar
HSD17B4	PERRAULT SYNDROME	PS233400	ClinVar, OMIM, HUMSAVAR
HYDIN	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
MECP2	AUTISM, SUSCEPTIBLITY TO	PS209850	ClinVar, OMIM
GP1BA	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM, HUMSAVAR
CDCA7	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES	PS242860	ClinVar, OMIM
PDGFRA	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC	607685	OMIM
TCN2	TRANSCOBALAMIN II DEFICIENCY	275350	ClinVar, OMIM
FERMT1	KINDLER SYNDROME	173650	OMIM, HUMSAVAR
KIAA1033	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM, HUMSAVAR
SCN4A	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1	170400	ClinVar
CARD11	IMMUNODEFICIENCY 11	615206	ClinVar, OMIM
TIRAP	BACTEREMIA, SUSCEPTIBILITY TO, 1	614382	OMIM
IQSEC2	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
MT-ATP6	NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA	551500	OMIM, HUMSAVAR
CYP1B1	GLAUCOMA, PRIMARY OPEN ANGLE	137760	ClinVar, HUMSAVAR
WT1	MESOTHELIOMA, MALIGNANT	156240	OMIM
IL17RA	FAMILIAL CANDIDIASIS	PS114580	ClinVar, OMIM
ACP2	ACID PHOSPHATASE DEFICIENCY	200950	OMIM
GDF6	MICROPHTHALMIA, ISOLATED	PS251600	ClinVar, OMIM, HUMSAVAR
SPINK5	NETHERTON SYNDROME	256500	ClinVar, OMIM
GJB1	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
HNF4A	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	125850	ClinVar, OMIM, HUMSAVAR
LMNA	EMERY-DREIFUSS MUSCULAR DYSTROPHY	PS310300	ClinVar, OMIM, HUMSAVAR
CASP8	LUNG CANCER	211980	OMIM
INPPL1	OPSISMODYSPLASIA	258480	ClinVar, OMIM, HUMSAVAR
IFNG	HEPATITIS C VIRUS, SUSCEPTIBILITY TO	609532	OMIM
SMARCE1	COFFIN-SIRIS SYNDROME	PS135900	ClinVar
SPTAN1	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM
COX6B1	MITOCHONDRIAL COMPLEX IV DEFICIENCY	220110	OMIM, HUMSAVAR
NDUFAF1	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM
NDUFA12	LEIGH SYNDROME	256000	OMIM
SMAD4	PANCREATIC CANCER	260350	ClinVar, OMIM
ABCG2	BLOOD GROUP, JUNIOR SYSTEM	614490	OMIM
OPLAH	5-OXOPROLINASE DEFICIENCY	260005	ClinVar, OMIM
PAX2	FOCAL SEGMENTAL GLOMERULOSCLEROSIS	PS603278	ClinVar, OMIM, HUMSAVAR
EP300	COLORECTAL CANCER	114500	OMIM
ELOVL5	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
FAAH	POLYSUBSTANCE ABUSE, SUSCEPTIBILITY TO	606581	ClinVar, OMIM
OTOG	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
CYP2D6	DRUG METABOLISM, POOR, CYP2D6-RELATED	608902	OMIM
SORT1	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6	613589	ClinVar, OMIM
NLGN4X	AUTISM, SUSCEPTIBLITY TO	PS209850	OMIM
ALDH18A1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
ALPL	HYPOPHOSPHATASIA, INFANTILE	241500	ClinVar, OMIM, HUMSAVAR
ANO5	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
APOC3	LISSENCEPHALY	PS607432	ClinVar, OMIM, HUMSAVAR
COL1A2	OSTEOGENESIS IMPERFECTA	PS166200	ClinVar, OMIM, HUMSAVAR
SIX6	OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY	212550	ClinVar, OMIM
FBLN5	CUTIS LAXA, AUTOSOMAL DOMINANT 2	614434	ClinVar, OMIM
CDKN3	HEPATOCELLULAR CARCINOMA	114550	HUMSAVAR
SLC40A1	HEMOCHROMATOSIS	PS235200	ClinVar, OMIM, HUMSAVAR
AR	PROSTATE CANCER	176807	OMIM
XRCC4	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA	262400	ClinVar
FOXE1	HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE	241850	ClinVar, OMIM, HUMSAVAR
TSC2	LYMPHANGIOLEIOMYOMATOSIS	606690	ClinVar, OMIM, HUMSAVAR
HACE1	SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES	616756	ClinVar, OMIM
FRAS1	FRASER SYNDROME	219000	OMIM
LMNB2	EPILEPSY, PROGRESSIVE MYOCLONIC	PS254800	ClinVar, OMIM, HUMSAVAR
TECR	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM, HUMSAVAR
SCN1B	CARDIAC ARRHYTHMIA	115000	ClinVar
SLC11A1	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	607948	OMIM
MYH6	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
SLC34A2	PULMONARY ALVEOLAR MICROLITHIASIS	265100	OMIM, HUMSAVAR
FOXP1	HYPOPLASTIC LEFT HEART SYNDROME	PS241550	ClinVar
MT-ATP6	LEBER OPTIC ATROPHY	535000	HUMSAVAR
NPR2	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE	602875	ClinVar, OMIM, HUMSAVAR
LTBP4	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC	613177	ClinVar, OMIM, HUMSAVAR
COL4A1	RETINAL ARTERIES, TORTUOSITY OF	180000	ClinVar, OMIM, HUMSAVAR
GNAQ	CAPILLARY MALFORMATIONS, CONGENITAL	163000	ClinVar, OMIM
PPM1D	BREAST CANCER	114480	OMIM
HSF4	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
TAF4B	SPERMATOGENIC FAILURE	PS258150	ClinVar, OMIM
LMNA	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT	PS159000	ClinVar, OMIM, HUMSAVAR
AIP	PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1	102200	ClinVar, OMIM
CDH23	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
NOS3	STROKE, ISCHEMIC	601367	OMIM
SLC29A3	HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME	602782	ClinVar, OMIM, HUMSAVAR
SMPD1	CEROID LIPOFUSCINOSES	PS256730	ClinVar
JUP	CARDIAC ARRHYTHMIA	115000	ClinVar
ALDH2	ALCOHOL DEPENDENCE	103780	ClinVar
SFTPB	SUFACTANT METABOLISM DYSFUNCTION, PULMONARY	PS265120	ClinVar, OMIM, HUMSAVAR
SOX10	PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE	609136	ClinVar, OMIM, HUMSAVAR
TNFRSF13B	IMMUNODEFICIENCY, COMMON VARIABLE	PS607594	ClinVar, OMIM, HUMSAVAR
CTHRC1	BARRETT ESOPHAGUS	614266	OMIM
PEX5	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA	PS215100	ClinVar, OMIM
HFE	PORPHYRIA CUTANEA TARDA	176100	OMIM
GLI3	POLYDACTYLY, PREAXIAL IV	174700	ClinVar, OMIM
CASK	FG SYNDROME 4	300422	ClinVar, OMIM, HUMSAVAR
APOB	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B	144010	ClinVar, OMIM, HUMSAVAR
UBA1	SPINAL MUSCULAR ATROPHY, X-LINKED 2	301830	ClinVar, OMIM, HUMSAVAR
RORC	IMMUNODEFICIENCY 42	616622	ClinVar, OMIM
MET	OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO	607278	ClinVar, OMIM
PTPRZ1	HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO	600263	OMIM
LIAS	PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY	PS312170	ClinVar, OMIM, HUMSAVAR
SOD2	MICROVASCULAR COMPLICATIONS OF DIABETES	PS603933	ClinVar, OMIM
COL11A2	FIBROCHONDROGENESIS	PS228520	OMIM
SLC34A3	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	241530	ClinVar, OMIM, HUMSAVAR
ADAMTSL4	ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE	225100	ClinVar, OMIM
TXNL4A	BURN-MCKEOWN SYNDROME	608572	ClinVar, OMIM
PDSS2	COENZYME Q10 DEFICIENCY, PRIMARY	PS607426	ClinVar, OMIM, HUMSAVAR
RP9	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
RSPH4A	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM, HUMSAVAR
PTPN11	LEOPARD SYNDROME	PS151100	ClinVar, OMIM, HUMSAVAR
KCNJ13	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM, HUMSAVAR
CCL3L1	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	OMIM
C10orf2	MITOCHONDRIAL DNA DEPLETION SYNDROME	PS603041	ClinVar, OMIM, HUMSAVAR
KANK2	PALMOPLANTAR KERATODERMA AND WOOLLY HAIR	616099	ClinVar, OMIM, HUMSAVAR
KCND3	BRUGADA SYNDROME	PS601144	ClinVar, OMIM, HUMSAVAR
KLF6	PROSTATE CANCER	176807	OMIM
GPX4	SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE	250220	ClinVar, OMIM
FXN	FRIEDREICH ATAXIA 1	229300	OMIM, HUMSAVAR
COL2A1	OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA	604864	ClinVar, OMIM, HUMSAVAR
FASLG	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME	601859	ClinVar, OMIM, HUMSAVAR
IKBKAP	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	PS162400	ClinVar, OMIM, HUMSAVAR
AKR1C2	46,XY SEX REVERSAL	PS400044	ClinVar, OMIM, HUMSAVAR
PIK3CA	NEVUS, EPIDERMAL	162900	ClinVar, OMIM
NDST1	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM, HUMSAVAR
ANO10	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10	613728	ClinVar, OMIM, HUMSAVAR
RNF170	ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT	608984	ClinVar, OMIM, HUMSAVAR
ACSF3	COMBINED MALONIC AND METHYLMALONIC ACIDURIA	614265	ClinVar, OMIM, HUMSAVAR
CASK	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
MAP2K2	CARDIOFACIOCUTANEOUS SYNDROME	PS115150	ClinVar, OMIM, HUMSAVAR
CX3CR1	MACULAR DEGENERATION, AGE-RELATED	PS603075	ClinVar, OMIM
VANGL2	NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO	182940	OMIM, HUMSAVAR
ACTA2	MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME	613834	ClinVar, OMIM, HUMSAVAR
DYX1C1	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
NOL3	MYOCLONUS, FAMILIAL CORTICAL	614937	ClinVar, OMIM, HUMSAVAR
SLC9A1	LICHTENSTEIN-KNORR SYNDROME	616291	ClinVar, OMIM, HUMSAVAR
LMNA	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	PS604772	ClinVar
COL2A1	STICKLER SYNDROME	PS108300	ClinVar, OMIM, HUMSAVAR
PPARG	GLIOMA	PS137800	ClinVar
RAX	MICROPHTHALMIA, ISOLATED	PS251600	ClinVar, OMIM, HUMSAVAR
CBX2	46,XY SEX REVERSAL	PS400044	ClinVar, OMIM, HUMSAVAR
AP1S2	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM
NDUFS2	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM, HUMSAVAR
CARTPT	OBESITY	601665	OMIM
IRF1	GASTRIC CANCER	613659	OMIM, HUMSAVAR
NOD2	SARCOIDOSIS, EARLY-ONSET	609464	ClinVar, OMIM, HUMSAVAR
SDHA	CARNEY TRIAD	604287	ClinVar
IRAK3	ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5	611064	ClinVar, OMIM
AURKA	COLORECTAL CANCER	114500	OMIM
LRP5	OSTEOPOROSIS	166710	ClinVar, OMIM
LRP8	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	608446	OMIM
JUP	NAXOS DISEASE	601214	ClinVar, OMIM
DYSF	MIYOSHI MUSCULAR DYSTROPHY	PS254130	ClinVar, OMIM, HUMSAVAR
BRAF	MELANOMA, CUTANEOUS MALIGNANT	PS155600	OMIM
SCN9A	EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS	PS604233	ClinVar, OMIM, HUMSAVAR
SCN11A	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	PS162400	ClinVar, OMIM, HUMSAVAR
TNFRSF11A	PAGET DISEASE OF BONE	PS167250	ClinVar, OMIM
EPCAM	DIARRHEA, CONGENITAL	PS214700	ClinVar, OMIM, HUMSAVAR
LRP1	ATROPHODERMA VERMICULATA	209700	ClinVar
CALM2	LONG QT SYNDROME	PS192500	ClinVar, OMIM
KIF1C	SPASTIC ATAXIA	PS108600	ClinVar, OMIM, HUMSAVAR
UGT1A4	HYPERBILIRUBINEMIA	PS237450	ClinVar, HUMSAVAR
CNGB3	ACHROMATOPSIA 3	262300	ClinVar, OMIM, HUMSAVAR
FAM134B	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	PS162400	ClinVar, OMIM
MYH8	CARNEY COMPLEX VARIANT	608837	OMIM, HUMSAVAR
TENM3	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA	PS300345	ClinVar, OMIM
PYCR1	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB	614438	ClinVar, OMIM, HUMSAVAR
KRT17	STEATOCYSTOMA MULTIPLEX	184500	OMIM, HUMSAVAR
PAX8	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS	PS275200	ClinVar, OMIM, HUMSAVAR
SORL1	ALZHEIMER DISEASE	104300	OMIM
IKBKB	IMMUNODEFICIENCY 15	615592	ClinVar, OMIM
MEGF10	MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET	614399	ClinVar, OMIM, HUMSAVAR
TRPV4	SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY	181405	ClinVar, OMIM, HUMSAVAR
GJA1	SYNDACTYLY, TYPE III	186100	ClinVar, OMIM, HUMSAVAR
ATP6V1B1	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS	267300	ClinVar, OMIM, HUMSAVAR
FASTKD2	MITOCHONDRIAL COMPLEX IV DEFICIENCY	220110	OMIM
CACNA1C	BRUGADA SYNDROME	PS601144	ClinVar, OMIM, HUMSAVAR
NR3C2	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY	605115	OMIM, HUMSAVAR
IFNAR2	IMMUNODEFICIENCY 45	616669	OMIM
CTNNA3	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	PS107970	ClinVar, OMIM, HUMSAVAR
GATA6	HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES	600001	ClinVar, OMIM, HUMSAVAR
GUSB	MUCOPOLYSACCHARIDOSES	PS607014	ClinVar, OMIM, HUMSAVAR
THRB	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	145650	ClinVar, OMIM, HUMSAVAR
MYO7A	USHER SYNDROME	PS276900	ClinVar, OMIM, HUMSAVAR
F5	STROKE, ISCHEMIC	601367	OMIM
TP53	OSTEOGENIC SARCOMA	259500	ClinVar, OMIM
CYP2A6	COUMARIN RESISTANCE	122700	OMIM
SDHA	PARAGANGLIOMAS	PS168000	ClinVar, OMIM, HUMSAVAR
C9	COMPLEMENT COMPONENT 9 DEFICIENCY	613825	ClinVar, OMIM, HUMSAVAR
CLRN1	USHER SYNDROME	PS276900	ClinVar, OMIM, HUMSAVAR
KCNJ5	LONG QT SYNDROME	PS192500	ClinVar, OMIM, HUMSAVAR
CTNNA1	MACULAR DYSTROPHY, PATTERNED	PS169150	ClinVar, OMIM
ARID1A	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
NFU1	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME	PS605711	ClinVar, OMIM, HUMSAVAR
P4HB	COLE-CARPENTER SYNDROME	PS112240	ClinVar, OMIM, HUMSAVAR
TBX6	SPONDYLOCOSTAL DYSOSTOSIS	PS277300	ClinVar, OMIM
DPM3	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
UNC13D	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3	608898	ClinVar, OMIM
IL10	GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO	614395	OMIM
CLCN1	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	255700	OMIM, HUMSAVAR
NLGN3	AUTISM, SUSCEPTIBLITY TO	PS209850	ClinVar, OMIM, HUMSAVAR
PAX6	PETERS ANOMALY	604229	OMIM, HUMSAVAR
RSPRY1	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE	616723	ClinVar, OMIM
BDNF	BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1	607499	OMIM
EEF1A2	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
GDNF	PHEOCHROMOCYTOMA	171300	OMIM
PRDM5	BRITTLE CORNEA SYNDROME	PS229200	ClinVar, OMIM, HUMSAVAR
GJA3	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
PRKCD	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III	615559	ClinVar, OMIM
ACTG1	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
CALCR	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15	613418	ClinVar
CRYGD	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
PRIMPOL	MYOPIA	PS160700	ClinVar, OMIM, HUMSAVAR
AKR1C4	46,XY SEX REVERSAL	PS400044	ClinVar, OMIM
ARMC4	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM, HUMSAVAR
SQSTM1	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
ELN	CUTIS LAXA, AUTOSOMAL DOMINANT 1	123700	ClinVar, OMIM
RELN	EPILEPSY, FAMILIAL TEMPORAL LOBE	PS600512	ClinVar, OMIM, HUMSAVAR
EYA1	OTOFACIOCERVICAL SYNDROME	PS166780	ClinVar, OMIM
VHL	RENAL CELL CARCINOMA, NONPAPILLARY	144700	OMIM, HUMSAVAR
GABBR2	TOBACCO ADDICTION, SUSCEPTIBILITY TO	188890	ClinVar, OMIM
RAF1	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
PDGFB	BASAL GANGLIA CALCIFICATION, IDIOPATHIC	PS213600	ClinVar, OMIM, HUMSAVAR
NDUFAF5	LEIGH SYNDROME	256000	HUMSAVAR
SP7	OSTEOGENESIS IMPERFECTA	PS166200	OMIM
VANGL1	NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO	182940	OMIM, HUMSAVAR
SELE	HYPERTENSION, ESSENTIAL	145500	OMIM
DNM2	MYOPATHY, CENTRONUCLEAR, X-LINKED	310400	ClinVar
PGR	PROGESTERONE RESISTANCE	264080	OMIM
TREX1	SYSTEMIC LUPUS ERYTHEMATOSUS	152700	OMIM, HUMSAVAR
KRT14	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE	131760	ClinVar, OMIM, HUMSAVAR
P2RX2	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
ADAMTS17	WEILL-MARCHESANI SYNDROME	PS277600	OMIM
TRPV4	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
UGT1A1	HYPERBILIRUBINEMIA	PS237450	ClinVar, OMIM, HUMSAVAR
SOS2	NOONAN SYNDROME	PS163950	ClinVar, OMIM, HUMSAVAR
DRD3	SCHIZOPHRENIA	181500	OMIM
MT-CYB	CARDIOMYOPATHY, INFANTILE HISTIOCYTOID	500000	OMIM, HUMSAVAR
CLCNKA	BARTTER SYNDROME	PS601678	ClinVar, OMIM, HUMSAVAR
KCNC1	EPILEPSY, PROGRESSIVE MYOCLONIC	PS254800	ClinVar, OMIM, HUMSAVAR
KCNT1	PONTOCEREBELLAR HYPOPLASIA	PS607596	ClinVar, OMIM, HUMSAVAR
EIF2B5	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	603896	ClinVar, OMIM, HUMSAVAR
RARS2	PONTOCEREBELLAR HYPOPLASIA	PS607596	ClinVar, OMIM
GPT2	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM, HUMSAVAR
WDR19	SHORT-RIB THORACIC DYSPLASIA	PS208500	ClinVar, OMIM, HUMSAVAR
AIFM1	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	OMIM, HUMSAVAR
KDR	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
TUBGCP4	MICROCEPHALY AND CHORIORETINOPATHY	PS251270	ClinVar, OMIM
MYOZ2	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
SLC52A2	BROWN-VIALETTO-VAN LAERE SYNDROME	PS211530	ClinVar, OMIM, HUMSAVAR
C4B	COMPLEMENT COMPONENT 4B DEFICIENCY	614379	OMIM
PLCE1	NEPHROTIC SYNDROME	PS256300	ClinVar, OMIM, HUMSAVAR
MYH7	MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT	608358	ClinVar, OMIM, HUMSAVAR
MC2R	GLUCOCORTICOID DEFICIENCY	PS202200	ClinVar, OMIM, HUMSAVAR
LMBR1	TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY	188740	ClinVar, OMIM
FBN2	ARTHROGRYPOSIS, DISTAL, TYPE 9	121050	ClinVar, OMIM, HUMSAVAR
SHANK3	PHELAN-MCDERMID SYNDROME	606232	ClinVar, OMIM, HUMSAVAR
DHFR	MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY	613839	ClinVar, OMIM, HUMSAVAR
CDSN	HYPOTRICHOSIS	PS605389	ClinVar, OMIM
KLHL40	NEMALINE MYOPATHY	PS161800	ClinVar, OMIM, HUMSAVAR
GLUL	GLUTAMINE DEFICIENCY, CONGENITAL	610015	ClinVar, OMIM, HUMSAVAR
IKZF1	IMMUNODEFICIENCY, COMMON VARIABLE	PS607594	ClinVar, OMIM
ACTG2	VISCERAL MYOPATHY	155310	ClinVar, OMIM, HUMSAVAR
ZMYND10	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM, HUMSAVAR
MOGS	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	ClinVar, OMIM, HUMSAVAR
MT-ATP6	LEIGH SYNDROME	256000	HUMSAVAR
KCNE1	HEARING LOSS, NOISE-INDUCED, SUSCEPTIBILITY TO	613035	ClinVar
MAF	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
PRKAR1A	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1	610489	ClinVar, OMIM
DIAPH1	SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME	616632	ClinVar, OMIM
NOG	MULTIPLE SYNOSTOSES SYNDROME	PS186500	ClinVar, OMIM, HUMSAVAR
ACKR1	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
TCOF1	TREACHER COLLINS SYNDROME	PS154500	ClinVar, OMIM, HUMSAVAR
PKD1	POLYCYSTIC KIDNEY DISEASE 1	173900	ClinVar, OMIM, HUMSAVAR
SNX10	OSTEOPETROSIS, AUTOSOMAL RECESSIVE	PS259700	ClinVar, OMIM, HUMSAVAR
SBDS	APLASTIC ANEMIA	609135	OMIM
AKAP9	CARDIAC ARRHYTHMIA	115000	ClinVar
MVK	MEVALONIC ACIDURIA	610377	ClinVar, OMIM, HUMSAVAR
DGUOK	MITOCHONDRIAL DNA DEPLETION SYNDROME	PS603041	ClinVar, OMIM, HUMSAVAR
JAK2	POLYCYTHEMIA VERA	263300	ClinVar, OMIM, HUMSAVAR
TSHZ1	AURAL ATRESIA, CONGENITAL	607842	ClinVar, OMIM
NANOS1	SPERMATOGENIC FAILURE	PS258150	ClinVar, OMIM
MTRR	GASTROINTESTINAL STROMAL TUMOR	606764	ClinVar
BLNK	AGAMMAGLOBULINEMIA	PS601495	ClinVar, OMIM
FGFR2	JACKSON-WEISS SYNDROME	123150	ClinVar, OMIM, HUMSAVAR
COX6A1	CHARCOT-MARIE-TOOTH DISEASE	PS118220	OMIM
PIK3CA	GASTRIC CANCER	613659	OMIM
MYOC	GLAUCOMA 1, OPEN ANGLE, A	137750	ClinVar, OMIM, HUMSAVAR
MT-ND4	LEBER OPTIC ATROPHY	535000	HUMSAVAR
LMBR1	LAURIN-SANDROW SYNDROME	135750	ClinVar, OMIM
TGFBR2	AORTIC ANEURYSM, FAMILIAL THORACIC	PS607086	ClinVar, OMIM, HUMSAVAR
TGFBR1	MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO	132800	ClinVar, OMIM, HUMSAVAR
CDK5	LISSENCEPHALY	PS607432	ClinVar, OMIM
BCR	LEUKEMIA, ACUTE LYMPHOBLASTIC	613065	OMIM
AGA	ASPARTYLGLUCOSAMINURIA	208400	ClinVar, OMIM, HUMSAVAR
TGM6	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
ARX	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
SAR1B	CHYLOMICRON RETENTION DISEASE	246700	ClinVar, OMIM, HUMSAVAR
MC3R	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	607948	OMIM
MSX1	TOOTH AGENESIS, SELECTIVE	PS106600	ClinVar, OMIM, HUMSAVAR
NKX2-5	HYPOPLASTIC LEFT HEART SYNDROME	PS241550	ClinVar, OMIM
GNAS-AS1	PSEUDOHYPOPARATHYROIDISM, TYPE IB	603233	OMIM
CHCHD10	MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT	616209	ClinVar, OMIM, HUMSAVAR
SCN1A	SEIZURES, FAMILIAL FEBRILE	PS121210	ClinVar, OMIM, HUMSAVAR
LAMA1	PORETTI-BOLTSHAUSER SYNDROME	615960	ClinVar, OMIM
SLC6A4	OBSESSIVE-COMPULSIVE DISORDER	164230	OMIM
PLEC	EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE	131950	ClinVar, OMIM, HUMSAVAR
IL2RA	DIABETES MELLITUS, INSULIN-DEPENDENT, 10	601942	ClinVar, OMIM
PRG4	CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME	208250	OMIM
ANG	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
COL8A2	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL	PS136800	ClinVar, OMIM, HUMSAVAR
NR2F1	BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME	615722	ClinVar, OMIM, HUMSAVAR
EGFR	NEONATAL INFLAMMATORY SKIN AND BOWEL DISEASE	PS614328	ClinVar, OMIM, HUMSAVAR
TERT	MELANOMA, CUTANEOUS MALIGNANT	PS155600	ClinVar, OMIM
COL4A3BP	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
NDUFS4	LEIGH SYNDROME	256000	OMIM
SDHB	PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	606864	OMIM
NOTCH1	EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE	130020	ClinVar
NEXN	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
MRPS22	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
PYCR1	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	612940	ClinVar, OMIM, HUMSAVAR
TLR3	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED	PS610551	ClinVar, OMIM, HUMSAVAR
SLC52A3	FAZIO-LONDE DISEASE	211500	OMIM
C8B	COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II	613789	ClinVar, OMIM
RAG1	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE	601457	OMIM
CHST8	PEELING SKIN SYNDROME	PS270300	ClinVar, OMIM, HUMSAVAR
CTNNB1	OVARIAN CANCER	167000	OMIM, HUMSAVAR
MT-TN	NEPHROPATHY, CHRONIC TUBULOINTERSTITIAL	551200	OMIM
FGFR2	BENT BONE DYSPLASIA SYNDROME	614592	ClinVar, OMIM, HUMSAVAR
SCN5A	SICK SINUS SYNDROME	PS608567	ClinVar, OMIM, HUMSAVAR
RBP3	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
TGDS	CATEL-MANZKE SYNDROME	616145	ClinVar, OMIM, HUMSAVAR
RSPH9	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
DCN	CORNEAL DYSTROPHY, CONGENITAL STROMAL	610048	OMIM
PEX16	PEROXISOME BIOGENESIS DISORDER	PS214100	ClinVar, OMIM, HUMSAVAR
GPR101	PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 2	300943	ClinVar, OMIM, HUMSAVAR
PAX6	COLOBOMA OF OPTIC NERVE	120430	OMIM, HUMSAVAR
DDC	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	608643	OMIM, HUMSAVAR
GARS	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA	600794	ClinVar, OMIM, HUMSAVAR
WHRN	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
GRIA3	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
HLA-DQB1	CREUTZFELDT-JAKOB DISEASE	123400	OMIM
SLC2A2	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM
SP110	HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY	235550	ClinVar, OMIM
DIP2B	MENTAL RETARDATION, FRA12A TYPE	136630	OMIM
MLH3	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS	PS120435	ClinVar, OMIM, HUMSAVAR
FIBP	MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE	248000	ClinVar
COL4A2	HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO	614519	ClinVar, OMIM
SEMA4A	CONE-ROD DYSTROPHY 10	610283	ClinVar, OMIM, HUMSAVAR
MYL3	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
COL13A1	MYASTHENIC SYNDROME, CONGENITAL	PS601462	OMIM
HSPB8	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	158590	ClinVar, OMIM, HUMSAVAR
LRRC6	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM, HUMSAVAR
ALAD	PORPHYRIA, ACUTE HEPATIC	612740	ClinVar, OMIM, HUMSAVAR
MSR1	BARRETT ESOPHAGUS	614266	OMIM
COL1A2	EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM	225320	OMIM
ERBB2	GASTRIC CANCER	613659	OMIM
RIT1	NOONAN SYNDROME	PS163950	ClinVar, OMIM, HUMSAVAR
IL6	RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE	604302	OMIM
UBE3B	KAUFMAN OCULOCEREBROFACIAL SYNDROME	244450	ClinVar, OMIM, HUMSAVAR
BDNF	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	209880	ClinVar, OMIM, HUMSAVAR
PHOX2A	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL	PS135700	ClinVar, OMIM, HUMSAVAR
BSCL2	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA	600794	ClinVar, OMIM, HUMSAVAR
MET	HEPATOCELLULAR CARCINOMA	114550	OMIM, HUMSAVAR
BMPR1A	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2	610069	OMIM
SPG7	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
WHRN	USHER SYNDROME	PS276900	ClinVar, OMIM
AARS2	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
KCNC3	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
GJC2	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
BCS1L	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1	124000	ClinVar, OMIM, HUMSAVAR
IFNG	APLASTIC ANEMIA	609135	OMIM
CCDC39	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
RPGRIP1L	MECKEL SYNDROME	PS249000	ClinVar, OMIM, HUMSAVAR
TET2	MYELODYSPLASTIC SYNDROME	614286	OMIM
AGTR1	RENAL TUBULAR DYSGENESIS	267430	ClinVar, OMIM, HUMSAVAR
GNAL	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
ERBB2	LUNG CANCER	211980	OMIM
DPP6	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2	612956	ClinVar, OMIM
SLC6A20	IMINOGLYCINURIA	242600	OMIM
TMEM240	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
NUP93	NEPHROTIC SYNDROME	PS256300	ClinVar, OMIM
PTCH1	BASAL CELL NEVUS SYNDROME	109400	ClinVar, OMIM, HUMSAVAR
MSMB	PROSTATE CANCER, HEREDITARY, 13	611928	ClinVar, OMIM
OTX2	MICROPHTHALMIA, SYNDROMIC	PS309800	ClinVar, OMIM, HUMSAVAR
JAGN1	NEUTROPENIA, SEVERE CONGENITAL	PS202700	ClinVar, OMIM, HUMSAVAR
DICER1	PLEUROPULMONARY BLASTOMA	601200	ClinVar, OMIM, HUMSAVAR
KRAS	RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER	614470	ClinVar, OMIM
PEX7	REFSUM DISEASE, CLASSIC	266500	ClinVar
RSPO1	PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL	610644	OMIM
WRAP53	DYSKERATOSIS CONGENITA	PS127550	ClinVar, OMIM, HUMSAVAR
AP4S1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
ASPA	CANAVAN DISEASE	271900	OMIM, HUMSAVAR
VWF	VON WILLEBRAND DISEASE, TYPE 1	193400	ClinVar, OMIM, HUMSAVAR
ROM1	LEBER CONGENITAL AMAUROSIS	PS204000	OMIM
MYT1L	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
NUP214	LEUKEMIA, ACUTE MYELOID	601626	OMIM
ASPM	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	ClinVar, OMIM, HUMSAVAR
MYO7A	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
GPD1	HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE	614480	ClinVar, OMIM, HUMSAVAR
RCBTB1	ALCOHOL DEPENDENCE	103780	OMIM
SRPX2	ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED	300643	ClinVar, OMIM, HUMSAVAR
SLC46A1	FOLATE MALABSORPTION, HEREDITARY	229050	OMIM, HUMSAVAR
COL4A2	PORENCEPHALY	PS175780	ClinVar, OMIM, HUMSAVAR
SMAD9	PULMONARY HYPERTENSION, PRIMARY	PS178600	ClinVar, OMIM, HUMSAVAR
DEC1	ESOPHAGEAL CANCER	133239	OMIM
ARSE	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE	302950	ClinVar, OMIM, HUMSAVAR
CEP290	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM
KIF1A	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
CDH3	HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY	601553	ClinVar, OMIM, HUMSAVAR
NOD2	BLAU SYNDROME	186580	ClinVar, OMIM, HUMSAVAR
ARL6	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM, HUMSAVAR
TP63	SPLIT-HAND/FOOT MALFORMATION	PS183600	ClinVar, OMIM, HUMSAVAR
PTPN11	JUVENILE MYELOMONOCYTIC LEUKEMIA	607785	ClinVar, OMIM, HUMSAVAR
POMK	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM
PIGT	PAROXYSMAL NOCTURNAL HEMOGLOBINURIA	PS300818	ClinVar, OMIM
IFNGR2	IMMUNODEFICIENCY 28	614889	ClinVar, OMIM, HUMSAVAR
SCN8A	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
MC1R	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN	PS227220	OMIM
CD151	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS	609057	OMIM
PEX1	PEROXISOME BIOGENESIS DISORDER	PS214100	ClinVar, OMIM, HUMSAVAR
PFKM	GLYCOGEN STORAGE DISEASE VII	232800	ClinVar, OMIM, HUMSAVAR
ASPN	INTERVERTEBRAL DISC DISEASE	603932	OMIM
TF	ATRANSFERRINEMIA	209300	OMIM, HUMSAVAR
MTMR2	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
FANCM	FANCONI ANEMIA	PS227650	ClinVar
ANTXR2	HYALINE FIBROMATOSIS SYNDROME	228600	ClinVar, OMIM, HUMSAVAR
MLH1	MUIR-TORRE SYNDROME	158320	OMIM
CCDC88C	HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1	236600	ClinVar, OMIM
CFI	COMPLEMENT FACTOR I DEFICIENCY	610984	ClinVar, OMIM, HUMSAVAR
KIF1A	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	PS162400	ClinVar, OMIM
MARS	INTERSTITIAL LUNG AND LIVER DISEASE	615486	ClinVar, OMIM, HUMSAVAR
COQ2	MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO	146500	ClinVar, OMIM, HUMSAVAR
WNT7A	FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY	228930	OMIM, HUMSAVAR
LRP5	OSTEOPETROSIS, AUTOSOMAL DOMINANT	PS607634	ClinVar, OMIM, HUMSAVAR
PRPF4	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
C10orf2	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MTDNA DELETIONS	PS157640	ClinVar, OMIM, HUMSAVAR
VAPB	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
SOX9	CAMPOMELIC DYSPLASIA	114290	ClinVar, OMIM, HUMSAVAR
VCL	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	603829	ClinVar
VPS13C	PARKINSON DISEASE	PS168600	ClinVar, OMIM
MFRP	NANOPHTHALMOS	PS600165	ClinVar, OMIM, HUMSAVAR
VIPAS39	ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS	PS208085	ClinVar, OMIM
SCN5A	SUDDEN INFANT DEATH SYNDROME	272120	ClinVar, OMIM, HUMSAVAR
UMOD	MEDULLARY CYSTIC KIDNEY DISEASE 2	603860	ClinVar, OMIM, HUMSAVAR
RAD21	CORNELIA DE LANGE SYNDROME	PS122470	ClinVar, OMIM, HUMSAVAR
CEP120	SHORT-RIB THORACIC DYSPLASIA	PS208500	ClinVar, OMIM, HUMSAVAR
TERT	PULMONARY FIBROSIS, IDIOPATHIC	178500	ClinVar
NPHP4	NEPHRONOPHTHISIS	PS256100	ClinVar, OMIM, HUMSAVAR
PLCB4	AURICULOCONDYLAR SYNDROME	PS602483	ClinVar, OMIM, HUMSAVAR
TLR4	MACULAR DEGENERATION, AGE-RELATED	PS603075	OMIM
FIG4	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
GLA	FABRY DISEASE	301500	OMIM, HUMSAVAR
APOA1	TANGIER DISEASE	205400	ClinVar
PUS1	MYOPATHY, LACTIC ACIDOSIS, AND SIDERBLASTIC ANEMIA	PS600462	ClinVar, OMIM, HUMSAVAR
ABO	BLOOD GROUP, ABO SYSTEM	616093	ClinVar, OMIM
MSH3	ENDOMETRIAL CANCER	608089	OMIM
FBN2	MARFAN SYNDROME	154700	ClinVar
IHH	ACROCAPITOFEMORAL DYSPLASIA	607778	ClinVar, OMIM, HUMSAVAR
L1CAM	HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS	307000	ClinVar, OMIM, HUMSAVAR
COL2A1	LEGG-CALVE-PERTHES DISEASE	150600	ClinVar, OMIM
SLC4A1	BLOOD GROUP--FROESE	601551	OMIM
CCR5	WEST NILE VIRUS, SUSCEPTIBILITY TO	610379	OMIM
TRIM2	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
FOXC1	PETERS ANOMALY	604229	HUMSAVAR
ELMOD3	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
RDH5	FUNDUS ALBIPUNCTATUS	136880	ClinVar, OMIM, HUMSAVAR
NCR3	MALARIA, MILD, SUSCEPTIBILITY TO	609148	ClinVar, OMIM
FOXP1	MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES	613670	OMIM, HUMSAVAR
ERCC8	UV-SENSITIVE SYNDROME	PS600630	ClinVar, OMIM, HUMSAVAR
PLAU	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
JPH2	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
IL17RD	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	OMIM, HUMSAVAR
ACTC1	LEFT VENTRICULAR NONCOMPACTION	PS604169	ClinVar, OMIM, HUMSAVAR
POC1B	CONE-ROD DYSTROPHY 20	615973	ClinVar, OMIM, HUMSAVAR
CX3CR1	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	OMIM
TAB2	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2	614980	ClinVar, OMIM, HUMSAVAR
DDX41	MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO	616871	ClinVar, OMIM
PRDM16	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
CHAMP1	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
PINK1	PARKINSON DISEASE	PS168600	ClinVar, OMIM, HUMSAVAR
SCN5A	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
COL9A1	EPIPHYSEAL DYSPLASIA, MULTIPLE	PS132400	ClinVar, OMIM
HARS	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
RNF6	ESOPHAGEAL CANCER	133239	OMIM
RTN2	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
RNASEH2A	AICARDI-GOUTIERES SYNDROME	PS225750	ClinVar, OMIM, HUMSAVAR
ICK	ENDOCRINE-CEREBROOSTEODYSPLASIA	612651	ClinVar, OMIM, HUMSAVAR
MYH14	PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS	614369	ClinVar, OMIM, HUMSAVAR
XYLT2	PSEUDOXANTHOMA ELASTICUM	264800	OMIM, HUMSAVAR
BGLAP	NEPHROLITHIASIS, CALCIUM OXALATE	167030	ClinVar
DES	SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE	181400	ClinVar, OMIM, HUMSAVAR
CLPP	PERRAULT SYNDROME	PS233400	ClinVar, OMIM, HUMSAVAR
TYRP1	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN	PS227220	ClinVar, OMIM
STRA6	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA	PS300345	ClinVar, OMIM, HUMSAVAR
B3GALNT2	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	PS236670	ClinVar, OMIM, HUMSAVAR
HTRA2	PARKINSON DISEASE	PS168600	ClinVar, OMIM, HUMSAVAR
KRT10	ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS	607602	OMIM, HUMSAVAR
RGR	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
XRCC3	MELANOMA, CUTANEOUS MALIGNANT	PS155600	ClinVar, OMIM, HUMSAVAR
ADAMTS18	KNOBLOCH SYNDROME 1	267750	ClinVar
PRKAR1A	MYXOMA, INTRACARDIAC	255960	OMIM
NPPA	ATRIAL STANDSTILL 2	615745	ClinVar, OMIM, HUMSAVAR
SLC22A4	RHEUMATOID ARTHRITIS	180300	ClinVar, OMIM
KRIT1	CEREBRAL CAVERNOUS MALFORMATIONS	116860	OMIM, HUMSAVAR
ABCD4	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE	614857	ClinVar, OMIM, HUMSAVAR
KRT86	MONILETHRIX	158000	ClinVar, OMIM, HUMSAVAR
RDH12	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
CTNNB1	MEDULLOBLASTOMA	155255	ClinVar, HUMSAVAR
LAMP2	DANON DISEASE	300257	ClinVar, OMIM, HUMSAVAR
FOXG1	RETT SYNDROME, CONGENITAL VARIANT	613454	OMIM, HUMSAVAR
INF2	FOCAL SEGMENTAL GLOMERULOSCLEROSIS	PS603278	ClinVar, OMIM, HUMSAVAR
CACNA1F	ALAND ISLAND EYE DISEASE	300600	OMIM, HUMSAVAR
LAMA3	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE	226700	ClinVar, OMIM
INSR	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	610549	ClinVar, OMIM, HUMSAVAR
CAST	PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS	616295	ClinVar, OMIM
RHO	NIGHT BLINDNESS, CONGENITAL STATIONARY	PS310500	ClinVar, OMIM, HUMSAVAR
PKLR	PYRUVATE KINASE DEFICIENCY OF RED CELLS	266200	ClinVar, OMIM, HUMSAVAR
ACE	RENAL TUBULAR DYSGENESIS	267430	ClinVar, OMIM
CD207	BIRBECK GRANULE DEFICIENCY	613393	ClinVar, OMIM, HUMSAVAR
PCK1	PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC	261680	OMIM
GNAQ	STURGE-WEBER SYNDROME	185300	ClinVar, OMIM, HUMSAVAR
IL4R	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	OMIM
KIAA0556	JOUBERT SYNDROME	PS213300	ClinVar, OMIM
TIRAP	INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED	PS610799	OMIM
DES	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
SLC4A1	BLOOD GROUP--DIEGO SYSTEM	110500	OMIM
CDKN1B	MULTIPLE ENDOCRINE NEOPLASIA	PS131100	ClinVar, OMIM
POMGNT2	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	PS236670	ClinVar, OMIM, HUMSAVAR
KRAS	OCULOECTODERMAL SYNDROME	600268	ClinVar
MTTP	ABETALIPOPROTEINEMIA	200100	ClinVar, OMIM, HUMSAVAR
GRIP1	FRASER SYNDROME	219000	OMIM
TSPAN12	EXUDATIVE VITREORETINOPATHY	PS133780	ClinVar, OMIM, HUMSAVAR
HOMER2	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
NPC1	NIEMANN-PICK DISEASE, TYPE C1	257220	ClinVar, OMIM, HUMSAVAR
MT-ND5	MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS	545000	OMIM
RP1L1	RETINITIS PIGMENTOSA	PS268000	ClinVar
PARN	DYSKERATOSIS CONGENITA	PS127550	ClinVar, OMIM, HUMSAVAR
KCNE3	BRUGADA SYNDROME	PS601144	ClinVar, OMIM
ZFHX3	PROSTATE CANCER	176807	OMIM
USP9Y	SPERMATOGENIC FAILURE	PS258150	OMIM
CASR	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	146200	ClinVar
NAT2	ACETYLATION, SLOW	243400	OMIM
FLT4	LYMPHEDEMA, HEREDITARY	PS153100	ClinVar, OMIM, HUMSAVAR
COQ9	COENZYME Q10 DEFICIENCY, PRIMARY	PS607426	ClinVar, OMIM
RAB3GAP1	WARBURG MICRO SYNDROME	PS600118	ClinVar, OMIM
PAX3	WAARDENBURG SYNDROME	PS193500	ClinVar, OMIM, HUMSAVAR
DNAH14	HYDROPS FETALIS, NONIMMUNE	236750	ClinVar
RAD51	BREAST CANCER	114480	OMIM, HUMSAVAR
SOS1	GINGIVAL FIBROMATOSIS	PS135300	ClinVar, OMIM
WWOX	ESOPHAGEAL CANCER	133239	OMIM
TP53	NASOPHARYNGEAL CARCINOMA	607107	ClinVar, OMIM
PLP1	LEUKODYSTROPHY, HYPOMYELINATING	PS312080	ClinVar, OMIM, HUMSAVAR
MT-ND4	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	540000	HUMSAVAR
PDE6A	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
GRHPR	HYPEROXALURIA, PRIMARY	PS259900	ClinVar, OMIM
PTCHD1	AUTISM, SUSCEPTIBLITY TO	PS209850	OMIM
HIKESHI	LEUKODYSTROPHY, HYPOMYELINATING	PS312080	ClinVar, OMIM
RMND1	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
FAM58A	TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS	300707	ClinVar, OMIM
MCFD2	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	613625	ClinVar, OMIM, HUMSAVAR
DMGDH	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY	605850	ClinVar, OMIM, HUMSAVAR
NSMF	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
PANK2	HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION	607236	OMIM
TFAP2B	CHAR SYNDROME	169100	ClinVar, OMIM, HUMSAVAR
ACTC1	ATRIAL SEPTAL DEFECT	PS108800	ClinVar, OMIM, HUMSAVAR
ADSL	ADENYLOSUCCINASE DEFICIENCY	103050	ClinVar, OMIM, HUMSAVAR
ALG11	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
STIM1	IMMUNODEFICIENCY 10	612783	ClinVar, OMIM, HUMSAVAR
PURA	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
KLHDC8B	LYMPHOMA, HODGKIN, CLASSIC	236000	ClinVar, OMIM
CHRND	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
SPTA1	SPHEROCYTOSIS, TYPE 3	270970	ClinVar, OMIM
MBL2	LECTIN COMPLEMENT ACTIVATION PATHWAY DEFECTS	PS614372	ClinVar, OMIM
CHUK	COCOON SYNDROME	613630	ClinVar, OMIM
TBX15	COUSIN SYNDROME	260660	OMIM
PMS2	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS	PS120435	ClinVar, OMIM, HUMSAVAR
CDK6	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	ClinVar, OMIM, HUMSAVAR
SLC4A4	RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION	604278	ClinVar, OMIM, HUMSAVAR
MYH9	MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS	600208	OMIM, HUMSAVAR
SPRTN	RUIJS-AALFS SYNDROME	616200	ClinVar, OMIM, HUMSAVAR
LHX4	PITUITARY HORMONE DEFICIENCY, COMBINED	PS613038	ClinVar, OMIM, HUMSAVAR
MRPL3	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
PEX11B	PEROXISOME BIOGENESIS DISORDER	PS214100	ClinVar, OMIM
PNPLA6	BOUCHER-NEUHAUSER SYNDROME	215470	ClinVar, OMIM, HUMSAVAR
TMPRSS3	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
PSAP	METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY	249900	OMIM, HUMSAVAR
TCF3	LEUKEMIA, ACUTE LYMPHOBLASTIC	613065	OMIM
NKX2-5	TETRALOGY OF FALLOT	187500	ClinVar, OMIM, HUMSAVAR
ENTPD1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
CFB	COMPLEMENT FACTOR B DEFICIENCY	615561	ClinVar, OMIM
SYCP3	SPERMATOGENIC FAILURE	PS258150	ClinVar, OMIM
MYH9	SEBASTIAN SYNDROME	605249	ClinVar, OMIM, HUMSAVAR
EDNRA	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1	157300	OMIM
RNF135	MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME	614192	ClinVar, OMIM, HUMSAVAR
GP9	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM, HUMSAVAR
HOXB13	PROSTATE CANCER	176807	HUMSAVAR
MUTYH	PILOMATRIXOMA	132600	OMIM
ADK	HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY	614300	OMIM, HUMSAVAR
TNFRSF13C	IMMUNODEFICIENCY, COMMON VARIABLE	PS607594	OMIM
SIGMAR1	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2	605726	ClinVar, OMIM
MLH1	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS	PS120435	ClinVar, OMIM, HUMSAVAR
RAB18	WARBURG MICRO SYNDROME	PS600118	ClinVar, OMIM, HUMSAVAR
ORAI1	MYOPATHY, TUBULAR AGGREGATE	PS160565	ClinVar, OMIM, HUMSAVAR
NDUFS8	LEIGH SYNDROME	256000	ClinVar, OMIM, HUMSAVAR
DNMT3A	TATTON-BROWN-RAHMAN SYNDROME	615879	ClinVar, OMIM, HUMSAVAR
IL23R	PSORIASIS	PS177900	OMIM
FGF20	RENAL HYPODYSPLASIA/APLASIA 2	615721	OMIM
CAPN10	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar
PLN	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM
MBTPS2	KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED	308800	ClinVar, OMIM, HUMSAVAR
CHMP2B	FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED	600795	ClinVar, OMIM, HUMSAVAR
STXBP1	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
TIRAP	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
FLNA	OTOPALATODIGITAL SYNDROME, TYPE I	311300	ClinVar, OMIM, HUMSAVAR
C15orf41	ANEMIA, CONGENITAL DYSERYTHROPOIETIC	PS224120	ClinVar, OMIM, HUMSAVAR
TRPA1	FAMILIAL EPISODIC PAIN SYNDROME	PS615040	ClinVar, OMIM, HUMSAVAR
DRD3	TREMOR, HEREDITARY ESSENTIAL	PS190300	OMIM
MAPRE2	SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL	PS156610	ClinVar, OMIM
TBX1	DIGEORGE SYNDROME	188400	ClinVar, OMIM, HUMSAVAR
GABRA1	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
RAG2	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE	601457	OMIM
COL1A1	OSTEOPOROSIS	166710	OMIM
COL7A1	TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN	131705	ClinVar, OMIM, HUMSAVAR
CR2	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9	610927	ClinVar, OMIM
KCNJ13	VITREORETINAL DEGENERATION, SNOWFLAKE TYPE	193230	ClinVar, OMIM, HUMSAVAR
TPM1	LEFT VENTRICULAR NONCOMPACTION	PS604169	ClinVar, OMIM, HUMSAVAR
ACTA1	NEMALINE MYOPATHY	PS161800	ClinVar, OMIM, HUMSAVAR
GP6	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM, HUMSAVAR
CTNNB1	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
NOG	TARSAL-CARPAL COALITION SYNDROME	186570	ClinVar, OMIM, HUMSAVAR
COL6A3	ULLRICH CONGENITAL MUSCULAR DYSTROPHY	PS254090	ClinVar, OMIM, HUMSAVAR
TRPV4	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	184252	ClinVar, OMIM, HUMSAVAR
ARL6	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
GFI1	NEUTROPENIA, SEVERE CONGENITAL	PS202700	ClinVar, OMIM, HUMSAVAR
TRDN	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	PS604772	ClinVar, OMIM, HUMSAVAR
SLC25A4	MITOCHONDRIAL DNA DEPLETION SYNDROME	PS603041	ClinVar, OMIM
B3GAT3	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS	245600	ClinVar, OMIM, HUMSAVAR
TWIST1	SAETHRE-CHOTZEN SYNDROME	101400	ClinVar, OMIM, HUMSAVAR
F7	FACTOR VII DEFICIENCY	227500	OMIM, HUMSAVAR
PRRT2	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
ERCC2	CEREBROOCULOFACIOSKELETAL SYNDROME	PS214150	ClinVar, OMIM, HUMSAVAR
GAS1	HOLOPROSENCEPHALY	PS236100	ClinVar
ACTA1	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	255310	ClinVar, OMIM, HUMSAVAR
SPTB	PYROPOIKILOCYTOSIS, HEREDITARY	266140	ClinVar
UBE2A	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
PEX19	PEROXISOME BIOGENESIS DISORDER	PS214100	OMIM
OFD1	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2	300209	ClinVar, OMIM
GJA5	ATRIAL FIBRILLATION, FAMILIAL	PS608583	ClinVar, OMIM, HUMSAVAR
CASQ1	MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES	616231	ClinVar, OMIM, HUMSAVAR
IGKC	IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY	614102	ClinVar, OMIM, HUMSAVAR
HFE	PORPHYRIA VARIEGATA	176200	OMIM
SLC6A17	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM, HUMSAVAR
KCNE1	LONG QT SYNDROME	PS192500	ClinVar, OMIM, HUMSAVAR
COL17A1	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	226650	ClinVar, OMIM, HUMSAVAR
LRP5	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1	601884	ClinVar, OMIM, HUMSAVAR
PGM3	IMMUNODEFICIENCY 23	615816	ClinVar, OMIM, HUMSAVAR
ALS2	SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING	607225	ClinVar, OMIM
NBN	BREAST CANCER	114480	HUMSAVAR
C9orf72	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM
RAD51C	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO	PS604370	ClinVar, OMIM, HUMSAVAR
TNC	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
RUBCN	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15	615705	OMIM
MTMR14	MYOPATHY, CENTRONUCLEAR	PS160150	OMIM, HUMSAVAR
PTCH2	MEDULLOBLASTOMA	155255	OMIM
COL4A3	ALPORT SYNDROME, AUTOSOMAL DOMINANT	104200	OMIM, HUMSAVAR
CRB1	PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY	172870	ClinVar, OMIM, HUMSAVAR
TRIM32	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
BRAF	THYROID CANCER, NONMEDULLARY	PS188550	ClinVar
OAS1	DIABETES MELLITUS, INSULIN-DEPENDENT	222100	OMIM
HERC2	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN	PS227220	ClinVar, OMIM
AR	ANDROGEN INSENSITIVITY SYNDROME	300068	ClinVar, OMIM, HUMSAVAR
IDH1	GLIOMA	PS137800	OMIM
BRCA2	WILMS TUMOR	PS194070	ClinVar, OMIM
MYBPC3	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	PS604772	ClinVar
ESRRB	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
MMP3	CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 6	614466	ClinVar, OMIM
BRAF	COLORECTAL CANCER	114500	OMIM, HUMSAVAR
TRIP4	SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES	PS616866	ClinVar, OMIM
HCN4	SICK SINUS SYNDROME	PS608567	ClinVar, OMIM, HUMSAVAR
SGCA	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
TNXB	VESICOURETERAL REFLUX	PS193000	ClinVar, OMIM, HUMSAVAR
MME	MEMBRANOUS NEPHROPATHY, SUSCEPTIBILITY TO	614692	OMIM
APOA1	AMYLOIDOSIS, FAMILIAL VISCERAL	105200	OMIM, HUMSAVAR
KCNJ18	THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1	188580	ClinVar
CELSR1	NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO	182940	HUMSAVAR
ST14	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE	PS242300	ClinVar, OMIM, HUMSAVAR
TCF7L2	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM
MYOM1	HYDROPS FETALIS, NONIMMUNE	236750	ClinVar
MYO6	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
NOTCH2	ALAGILLE SYNDROME	PS118450	ClinVar, OMIM, HUMSAVAR
PRDM5	AXENFELD-RIEGER SYNDROME, TYPE 1	180500	ClinVar
ING3	SQUAMOUS CELL CARCINOMA, HEAD AND NECK	275355	HUMSAVAR
GYS1	GLYCOGEN STORAGE DISEASE 0, MUSCLE	611556	ClinVar, OMIM
SHMT1	GASTROINTESTINAL STROMAL TUMOR	606764	ClinVar
ENG	TELANGIECTASIA, HEREDITARY HEMORRHAGIC	PS187300	ClinVar, OMIM, HUMSAVAR
TEK	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	600195	ClinVar, OMIM, HUMSAVAR
SERPINF2	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	262850	ClinVar, OMIM, HUMSAVAR
COL6A3	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
SLC22A18	LUNG CANCER	211980	OMIM, HUMSAVAR
NUMA1	ACUTE PROMYELOCYTIC LEUKEMIA	612376	OMIM
ADH1C	ALCOHOL DEPENDENCE	103780	ClinVar, OMIM
PIK3R1	SHORT SYNDROME	269880	ClinVar, OMIM, HUMSAVAR
NDUFA11	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM
SOX3	PANHYPOPITUITARISM, X-LINKED	312000	ClinVar, OMIM
UQCRQ	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4	615159	ClinVar, OMIM, HUMSAVAR
PROS1	THROMBOPHILIA	PS188050	ClinVar, OMIM, HUMSAVAR
HR	ALOPECIA, ISOLATED	PS203655	ClinVar, OMIM, HUMSAVAR
GATA6	CONOTRUNCAL HEART MALFORMATIONS	217095	OMIM, HUMSAVAR
KCNH2	SUDDEN INFANT DEATH SYNDROME	272120	ClinVar
ITGB3	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	608446	OMIM
DVL1	ROBINOW SYNDROME	PS268310	OMIM
NRAS	NEVUS, EPIDERMAL	162900	ClinVar, OMIM, HUMSAVAR
NKX2-6	CONOTRUNCAL HEART MALFORMATIONS	217095	OMIM, HUMSAVAR
NPPA	CARDIAC ARRHYTHMIA	115000	ClinVar
ASPN	OSTEOARTHRITIS SUSCEPTIBILITY 3	607850	ClinVar, OMIM
ADGRE2	VIBRATORY URTICARIA	125630	ClinVar, OMIM
PARK2	LUNG CANCER	211980	OMIM
TAC3	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	OMIM, HUMSAVAR
MARS2	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
CHST6	MACULAR DYSTROPHY, CORNEAL	217800	ClinVar, OMIM, HUMSAVAR
MAN2B1	MANNOSIDOSIS, ALPHA B, LYSOSOMAL	248500	ClinVar, OMIM, HUMSAVAR
ABHD12	POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT	612674	ClinVar, OMIM
NRXN1	PITT-HOPKINS-LIKE SYNDROME 2	614325	ClinVar, OMIM
SLC24A4	AMELOGENESIS IMPERFECTA	PS104500	ClinVar, OMIM, HUMSAVAR
PMP22	ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA	180800	OMIM
AANAT	DELAYED SLEEP PHASE SYNDROME, SUSCEPTIBILITY TO	614163	ClinVar
HMGCL	3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY	246450	ClinVar, OMIM, HUMSAVAR
FGFR3	ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS	616482	OMIM, HUMSAVAR
ABCG8	SITOSTEROLEMIA	210250	ClinVar, OMIM, HUMSAVAR
PRNP	CREUTZFELDT-JAKOB DISEASE	123400	ClinVar, OMIM, HUMSAVAR
CAV3	CREATINE PHOSPHOKINASE, ELEVATED SERUM	123320	ClinVar, OMIM, HUMSAVAR
NQO2	BREAST CANCER	114480	OMIM
GPC3	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	312870	ClinVar, OMIM, HUMSAVAR
DIAPH1	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM
LRPPRC	LEIGH SYNDROME, FRENCH CANADIAN TYPE	220111	ClinVar, OMIM, HUMSAVAR
HYAL1	MUCOPOLYSACCHARIDOSES	PS607014	ClinVar, OMIM, HUMSAVAR
GRIK2	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM
PLOD3	BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	612394	ClinVar, OMIM, HUMSAVAR
KRT74	HYPOTRICHOSIS	PS605389	ClinVar, OMIM, HUMSAVAR
HNF1A	HEPATIC ADENOMAS, FAMILIAL	142330	ClinVar, OMIM
COL2A1	CZECH DYSPLASIA	609162	ClinVar, OMIM, HUMSAVAR
GCDH	GLUTARIC ACIDEMIA I	231670	ClinVar, OMIM, HUMSAVAR
COLQ	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
MAT1A	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY	250850	OMIM, HUMSAVAR
TYR	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN	PS227220	ClinVar, OMIM
DST	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	PS162400	OMIM
SHH	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA	PS300345	OMIM
TUBA8	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 8	613180	OMIM
BEAN1	SPINOCEREBELLAR ATAXIA	PS164400	OMIM
PUF60	VERHEIJ SYNDROME	615583	ClinVar, OMIM, HUMSAVAR
WDR11	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
PDE10A	STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2	616922	ClinVar
LMNA	LIPODYSTROPHY, FAMILIAL PARTIAL	PS151660	ClinVar, OMIM, HUMSAVAR
PDGFB	DERMATOFIBROSARCOMA PROTUBERANS	607907	ClinVar, OMIM
GDF5	ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE	201250	ClinVar, OMIM
COL11A2	WEISSENBACHER-ZWEYMULLER SYNDROME	277610	ClinVar, OMIM, HUMSAVAR
CLIC5	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
FHL1	EMERY-DREIFUSS MUSCULAR DYSTROPHY	PS310300	ClinVar, OMIM, HUMSAVAR
UMOD	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE	PS162000	ClinVar, OMIM, HUMSAVAR
CPOX	COPROPORPHYRIA, HEREDITARY	121300	OMIM, HUMSAVAR
MC4R	SCHIZOPHRENIA	181500	ClinVar
CACNA1G	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM
DBT	MAPLE SYRUP URINE DISEASE	PS248600	ClinVar, OMIM, HUMSAVAR
SCN2B	ATRIAL FIBRILLATION, FAMILIAL	PS608583	ClinVar, OMIM, HUMSAVAR
KLF6	GASTRIC CANCER	613659	OMIM
ZNF687	PAGET DISEASE OF BONE	PS167250	ClinVar, OMIM
CRB2	VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE	219730	ClinVar, OMIM, HUMSAVAR
XRCC4	SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION	616541	ClinVar, OMIM, HUMSAVAR
VSX2	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA	PS300345	ClinVar, OMIM, HUMSAVAR
HRAS	COSTELLO SYNDROME	218040	ClinVar, OMIM, HUMSAVAR
PARK2	PARKINSON DISEASE	PS168600	ClinVar, OMIM, HUMSAVAR
KIF1B	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
TP53	ADRENOCORTICAL CARCINOMA, HEREDITARY	202300	OMIM
TYROBP	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	221770	ClinVar, OMIM
CD3G	IMMUNODEFICIENCY 17	615607	ClinVar, OMIM
KATNB1	LISSENCEPHALY	PS607432	ClinVar, OMIM, HUMSAVAR
SKIV2L	TRICHOHEPATOENTERIC SYNDROME	PS222470	ClinVar, OMIM, HUMSAVAR
CEP83	NEPHRONOPHTHISIS	PS256100	ClinVar, OMIM, HUMSAVAR
AMPD3	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	612874	OMIM, HUMSAVAR
FBXO38	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID	615575	ClinVar, OMIM, HUMSAVAR
B4GALT1	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	OMIM
DES	MYOFIBRILLAR MYOPATHY	PS601419	ClinVar, OMIM, HUMSAVAR
LZTR1	SCHWANNOMATOSIS	PS162091	ClinVar, OMIM, HUMSAVAR
SLC30A2	ZINC DEFICIENCY, TRANSIENT NEONATAL	608118	ClinVar, OMIM, HUMSAVAR
SLC34A2	TESTICULAR MICROLITHIASIS	610441	OMIM
PET100	MITOCHONDRIAL COMPLEX IV DEFICIENCY	220110	OMIM
SHANK3	SCHIZOPHRENIA 15	613950	ClinVar, OMIM, HUMSAVAR
DNMT1	CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT	604121	ClinVar, OMIM, HUMSAVAR
HLA-DRB1	SARCOIDOSIS, SUSCEPTIBILITY TO, 1	181000	ClinVar, OMIM
MPL	MYELOFIBROSIS	254450	OMIM, HUMSAVAR
LMNA	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED	613205	ClinVar, OMIM, HUMSAVAR
TCAP	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
HBB	BETA-THALASSEMIA	613985	OMIM, HUMSAVAR
MMACHC	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE	277400	OMIM, HUMSAVAR
MC1R	INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC	613098	OMIM
KRAS	PANCREATIC CANCER	260350	ClinVar, OMIM
ATXN8	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM
XYLT2	SPONDYLOOCULAR SYNDROME	605822	ClinVar, OMIM
PANK2	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION	PS234200	ClinVar, OMIM, HUMSAVAR
SMN1	SPINAL MUSCULAR ATROPHY, TYPE I	253300	ClinVar, OMIM, HUMSAVAR
RAD54B	COLORECTAL CANCER	114500	OMIM
HSD17B4	D-BIFUNCTIONAL PROTEIN DEFICIENCY	261515	OMIM, HUMSAVAR
C5orf42	JOUBERT SYNDROME	PS213300	ClinVar, OMIM, HUMSAVAR
MUT	METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY	251000	OMIM, HUMSAVAR
TNXB	EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE	130020	ClinVar
TRPV4	SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1	613508	ClinVar, OMIM
WDR73	GALLOWAY-MOWAT SYNDROME	251300	ClinVar, OMIM
PTCH1	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
LBR	GREENBERG DYSPLASIA	215140	ClinVar, OMIM
GNAS	OSSEOUS HETEROPLASIA, PROGRESSIVE	166350	OMIM, HUMSAVAR
VSX1	CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME	614195	ClinVar, OMIM, HUMSAVAR
DDX11	WARSAW BREAKAGE SYNDROME	613398	ClinVar, OMIM, HUMSAVAR
SNAP25	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
VCP	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM
ECHS1	LEIGH SYNDROME	256000	ClinVar
AAAS	ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME	231550	ClinVar, OMIM, HUMSAVAR
CD36	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM, HUMSAVAR
WNT1	OSTEOPOROSIS	166710	HUMSAVAR
ERCC2	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	278730	ClinVar, OMIM, HUMSAVAR
PSPH	PHOSPHOSERINE PHOSPHATASE DEFICIENCY	614023	ClinVar, OMIM, HUMSAVAR
SNCAIP	PARKINSON DISEASE	PS168600	ClinVar
PEX14	PEROXISOME BIOGENESIS DISORDER	PS214100	ClinVar, OMIM
PDE3A	HYPERTENSION AND BRACHYDACTYLY SYNDROME	112410	ClinVar, OMIM, HUMSAVAR
UBQLN2	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
CLCN2	LEUKOENCEPHALOPATHY WITH ATAXIA	615651	ClinVar, OMIM, HUMSAVAR
AGL	GLYCOGEN STORAGE DISEASE III	232400	ClinVar, OMIM, HUMSAVAR
ATXN2	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM
MT-ATP6	STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL	500003	OMIM, HUMSAVAR
ARID1B	COFFIN-SIRIS SYNDROME	PS135900	ClinVar, OMIM
MCEE	METHYLMALONYL-COA EPIMERASE DEFICIENCY	251120	ClinVar, OMIM
RIPK4	POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE	263650	ClinVar, OMIM, HUMSAVAR
KMT2D	KABUKI SYNDROME	PS147920	ClinVar, OMIM, HUMSAVAR
POLG	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MTDNA DELETIONS	PS157640	ClinVar, OMIM, HUMSAVAR
TYMP	MITOCHONDRIAL DNA DEPLETION SYNDROME	PS603041	ClinVar, OMIM, HUMSAVAR
ARHGDIA	NEPHROTIC SYNDROME	PS256300	ClinVar, OMIM
CALR	MYELOFIBROSIS	254450	OMIM
CLASP1	MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I	210710	ClinVar
CCL11	ASTHMA, SUSCEPTIBILITY TO	600807	ClinVar, OMIM
KDM6A	KABUKI SYNDROME	PS147920	ClinVar, OMIM
TTLL5	CONE-ROD DYSTROPHY 19	615860	ClinVar, OMIM, HUMSAVAR
SDC3	OBESITY	601665	OMIM
PIK3CA	BREAST CANCER	114480	OMIM, HUMSAVAR
F7	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	608446	OMIM
CYP19A1	AROMATASE DEFICIENCY	613546	OMIM, HUMSAVAR
SLC37A4	GLYCOGEN STORAGE DISEASE IB	232220	ClinVar, OMIM, HUMSAVAR
HS6ST1	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	OMIM, HUMSAVAR
ATP6V0A2	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA	219200	ClinVar, OMIM
TNNT3	ARTHROGRYPOSIS, DISTAL, TYPE 2B	601680	ClinVar, OMIM, HUMSAVAR
WAS	WISKOTT-ALDRICH SYNDROME	301000	ClinVar, OMIM, HUMSAVAR
BSCL2	ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY	615924	ClinVar, OMIM
KRT14	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED	131900	ClinVar, OMIM, HUMSAVAR
MBTPS2	PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED	300918	ClinVar, OMIM, HUMSAVAR
PCSK9	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3	603776	ClinVar, OMIM, HUMSAVAR
CRYBA2	CATARACT	PS116200	OMIM, HUMSAVAR
HSPD1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
TUBB	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS	PS614039	ClinVar, OMIM, HUMSAVAR
ELOVL4	ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION	614457	ClinVar, OMIM
TUBB8	OOCYTE MATURATION DEFECT	PS615774	ClinVar, OMIM
F5	FACTOR V DEFICIENCY	227400	ClinVar, OMIM, HUMSAVAR
PIK3CA	KERATOSIS, SEBORRHEIC	182000	OMIM, HUMSAVAR
EPB42	SPHEROCYTOSIS, TYPE 5	612690	ClinVar, OMIM, HUMSAVAR
MSH2	MISMATCH REPAIR CANCER SYNDROME	276300	ClinVar, OMIM
CACNA1S	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1	170400	ClinVar, OMIM, HUMSAVAR
SCN4B	SUDDEN INFANT DEATH SYNDROME	272120	ClinVar
IMPDH1	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
PTH	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	146200	ClinVar, OMIM, HUMSAVAR
XDH	XANTHINURIA, TYPE I	278300	OMIM, HUMSAVAR
SLC37A4	GLYCOGEN STORAGE DISEASE IC	232240	ClinVar, OMIM, HUMSAVAR
COQ4	COENZYME Q10 DEFICIENCY, PRIMARY	PS607426	ClinVar, OMIM, HUMSAVAR
COL11A1	INTERVERTEBRAL DISC DISEASE	603932	OMIM
FAM111B	POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS	615704	ClinVar, OMIM, HUMSAVAR
CUBN	MEGALOBLASTIC ANEMIA 1	261100	ClinVar, OMIM, HUMSAVAR
MARS	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
PFN1	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
ZIC3	VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS	314390	ClinVar, OMIM, HUMSAVAR
COL4A4	ALPORT SYNDROME, AUTOSOMAL RECESSIVE	203780	OMIM, HUMSAVAR
EPHB2	PROSTATE CANCER	176807	HUMSAVAR
DDX59	OROFACIODIGITAL SYNDROME V	174300	ClinVar, OMIM, HUMSAVAR
ADIPOQ	ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1	612556	OMIM, HUMSAVAR
LMF1	LIPASE DEFICIENCY, COMBINED	246650	OMIM
ZMYND15	SPERMATOGENIC FAILURE	PS258150	OMIM
HIP1	PROSTATE CANCER	176807	OMIM
PLEKHG4	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar
GDF5	PROXIMAL SYMPHALANGISM	PS185800	ClinVar, OMIM, HUMSAVAR
CALCR	OSTEOPOROSIS	166710	OMIM
PTEN	COWDEN DISEASE	PS158350	ClinVar, OMIM, HUMSAVAR
ASPH	FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS	601552	OMIM, HUMSAVAR
NR2E3	ENHANCED S-CONE SYNDROME	268100	ClinVar, OMIM, HUMSAVAR
PALB2	FANCONI ANEMIA	PS227650	ClinVar, OMIM
FOXF1	ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS	265380	ClinVar, OMIM, HUMSAVAR
ACTA2	MOYAMOYA DISEASE	PS252350	ClinVar, OMIM, HUMSAVAR
IL2RG	COMBINED IMMUNODEFICIENCY, X-LINKED	312863	ClinVar, OMIM, HUMSAVAR
ITPR1	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
TUBB3	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS	PS614039	ClinVar, OMIM, HUMSAVAR
TPM2	NEMALINE MYOPATHY	PS161800	ClinVar, OMIM, HUMSAVAR
CCDC103	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM, HUMSAVAR
AKR1D1	BILE ACID SYNTHESIS DEFECT, CONGENITAL	PS607765	ClinVar, OMIM, HUMSAVAR
TTC21B	BARDET-BIEDL SYNDROME	PS209900	HUMSAVAR
MIR204	RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT	616722	ClinVar, OMIM
ANKRD26	THROMBOCYTOPENIA 2	188000	ClinVar, OMIM
KCNQ1	CARDIAC ARRHYTHMIA	115000	ClinVar
NR2F2	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4	615779	ClinVar, OMIM, HUMSAVAR
SLC36A2	IMINOGLYCINURIA	242600	OMIM, HUMSAVAR
CASR	HYPOCALCEMIA	PS601198	ClinVar, OMIM, HUMSAVAR
ANTXR1	GAPO SYNDROME	230740	OMIM
SPATA16	SPERMATOGENIC FAILURE	PS258150	ClinVar, OMIM, HUMSAVAR
ZNF592	GALLOWAY-MOWAT SYNDROME	251300	ClinVar
DHDDS	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
FLNA	FRONTOMETAPHYSEAL DYSPLASIA	305620	ClinVar, OMIM, HUMSAVAR
ERF	CRANIOSYNOSTOSIS 4	600775	ClinVar, OMIM, HUMSAVAR
C1R	COMPLEMENT COMPONENT C1R/C1S DEFICIENCY	216950	OMIM
ST3GAL3	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
KRT17	PACHYONYCHIA CONGENITA	PS167200	ClinVar, OMIM, HUMSAVAR
VMA21	MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY	310440	ClinVar, OMIM
MOCS2	MOLYBDENUM COFACTOR DEFICIENCY	PS252150	ClinVar, OMIM, HUMSAVAR
TLR2	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	607948	OMIM
PRSS2	PANCREATITIS, HEREDITARY	167800	OMIM
CFHR1	HEMOLYTIC UREMIC SYNDROME	PS235400	OMIM
FCGR3A	IMMUNODEFICIENCY 20	615707	ClinVar, OMIM, HUMSAVAR
TNNI3	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
LINS1	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	OMIM
TBC1D24	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
PPARGC1B	OBESITY	601665	OMIM
GLRX5	ANEMIA, SIDEROBLASTIC	PS300751	ClinVar, OMIM, HUMSAVAR
AP3B1	HERMANSKY-PUDLAK SYNDROME	PS203300	ClinVar, OMIM, HUMSAVAR
GJB3	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	OMIM
MASP2	LECTIN COMPLEMENT ACTIVATION PATHWAY DEFECTS	PS614372	OMIM, HUMSAVAR
DNAJB6	MYOFIBRILLAR MYOPATHY	PS601419	ClinVar
BRCA1	OVARIAN CANCER	167000	HUMSAVAR
MPV17	MITOCHONDRIAL DNA DEPLETION SYNDROME	PS603041	ClinVar, OMIM, HUMSAVAR
IRF8	IMMUNODEFICIENCY 32B	614894	ClinVar, OMIM, HUMSAVAR
COMT	PANIC DISORDER 1	167870	OMIM
FBN1	GELEOPHYSIC DYSPLASIA	PS231050	ClinVar, OMIM, HUMSAVAR
FIGLA	PREMATURE OVARIAN FAILURE 6	612310	OMIM
HNRNPA1	INCLUSION BODY MYOPATHY/PAGET DISEASE/FRONTOTEMPORAL DEMENTIA	PS167320	ClinVar, OMIM, HUMSAVAR
MYF6	MYOPATHY, CENTRONUCLEAR	PS160150	ClinVar, OMIM, HUMSAVAR
KL	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL	211900	OMIM, HUMSAVAR
TBXAS1	BLEEDING DISORDER, PLATELET-TYPE	PS231200	OMIM
PDYN	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
MT-CO1	DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL	500008	OMIM
LRAT	RETINITIS PIGMENTOSA	PS268000	ClinVar
COQ7	COENZYME Q10 DEFICIENCY, PRIMARY	PS607426	ClinVar, OMIM
KCNH2	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	PS604772	ClinVar
CHRNA1	HYDROPS FETALIS, NONIMMUNE	236750	ClinVar
ABCA3	SUFACTANT METABOLISM DYSFUNCTION, PULMONARY	PS265120	ClinVar, OMIM, HUMSAVAR
SCN9A	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	OMIM
EP300	RUBINSTEIN-TAYBI SYNDROME	PS180849	ClinVar, OMIM
GDF1	RIGHT ATRIAL ISOMERISM	208530	ClinVar, OMIM
CD82	PROSTATE CANCER	176807	OMIM
LEP	LEPTIN DEFICIENCY OR DYSFUNCTION	614962	ClinVar, OMIM, HUMSAVAR
ATP1A2	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	602481	ClinVar, OMIM, HUMSAVAR
MSH6	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS	PS120435	ClinVar, OMIM, HUMSAVAR
ITGA2	BLEEDING DISORDER, PLATELET-TYPE	PS231200	OMIM
KCNK9	BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME	612292	OMIM, HUMSAVAR
PPP1R3A	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	HUMSAVAR
MPLKIP	TRICHOTHIODYSTROPHY	PS601675	ClinVar, OMIM, HUMSAVAR
CYP26C1	FOCAL FACIAL DERMAL DYSPLASIA	PS136500	ClinVar, OMIM
ACADS	ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF	201470	ClinVar, OMIM, HUMSAVAR
ZBTB20	OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGES	259050	ClinVar, OMIM, HUMSAVAR
HPS3	HERMANSKY-PUDLAK SYNDROME	PS203300	ClinVar, OMIM, HUMSAVAR
HRAS	SUPRAVALVULAR AORTIC STENOSIS	185500	ClinVar
FECH	PROTOPORPHYRIA, ERYTHROPOIETIC	177000	ClinVar, OMIM, HUMSAVAR
PLEKHG2	LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA	616763	OMIM
RET	RENAL HYPODYSPLASIA/APLASIA 1	191830	ClinVar, OMIM
PRKAR1A	ACRODYSOSTOSIS	PS101800	ClinVar, OMIM, HUMSAVAR
PSEN1	ALZHEIMER DISEASE 4	606889	ClinVar
SEC23A	CRANIOLENTICULOSUTURAL DYSPLASIA	607812	ClinVar, OMIM, HUMSAVAR
FOXRED1	LEIGH SYNDROME	256000	OMIM
SMARCAL1	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	242900	ClinVar, OMIM, HUMSAVAR
PEX26	PEROXISOME BIOGENESIS DISORDER	PS214100	ClinVar, OMIM, HUMSAVAR
MPL	AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL	604498	ClinVar, OMIM, HUMSAVAR
PDHX	PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY	PS312170	ClinVar, OMIM
MUSK	FETAL AKINESIA DEFORMATION SEQUENCE	208150	ClinVar, OMIM, HUMSAVAR
TGFBI	CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE	602082	ClinVar, OMIM, HUMSAVAR
PDGFRB	PREMATURE AGING SYNDROME, PENTTINEN TYPE	601812	OMIM
KRT25	HYPOTRICHOSIS	PS605389	ClinVar
ITM2B	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES	616079	ClinVar, OMIM, HUMSAVAR
IKBKG	IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA	300584	OMIM, HUMSAVAR
PCLO	PONTOCEREBELLAR HYPOPLASIA	PS607596	ClinVar, OMIM
SOST	CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	122860	ClinVar, OMIM, HUMSAVAR
CYP21A2	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	201910	ClinVar, OMIM, HUMSAVAR
UCP2	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4	607447	ClinVar, OMIM
SPINT2	DIARRHEA, CONGENITAL	PS214700	OMIM, HUMSAVAR
KIF1B	PHEOCHROMOCYTOMA	171300	OMIM
BMP2	HEMOCHROMATOSIS	PS235200	OMIM
SYNE1	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8	610743	ClinVar, OMIM
XIST	X INACTIVATION, FAMILIAL SKEWED, 1	300087	ClinVar, OMIM
DOCK2	IMMUNODEFICIENCY 40	616433	ClinVar, OMIM, HUMSAVAR
ATXN2	PARKINSON DISEASE	PS168600	ClinVar, OMIM
HAVCR1	IGE RESPONSIVENESS, ATOPIC	147050	OMIM
RS1	RETINOSCHISIS 1, X-LINKED, JUVENILE	312700	ClinVar, OMIM, HUMSAVAR
WFS1	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	OMIM
PDCD1	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2	605218	OMIM
SLC52A3	BROWN-VIALETTO-VAN LAERE SYNDROME	PS211530	ClinVar, OMIM, HUMSAVAR
CDKN1C	BECKWITH-WIEDEMANN SYNDROME	130650	ClinVar, OMIM, HUMSAVAR
CD59	HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY	612300	ClinVar, OMIM, HUMSAVAR
DRD5	ATTENTION DEFICIT-HYPERACTIVITY DISORDER	143465	OMIM
MT-TL1	DIABETES AND DEAFNESS, MATERNALLY INHERITED	520000	OMIM
NSD1	LEUKEMIA, ACUTE MYELOID	601626	OMIM
PTS	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	261640	ClinVar, OMIM, HUMSAVAR
LEMD3	MELORHEOSTOSIS, ISOLATED	155950	OMIM
HSD17B3	17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	264300	OMIM, HUMSAVAR
F11	FACTOR XI DEFICIENCY	612416	OMIM, HUMSAVAR
ERBB3	LETHAL CONGENITAL CONTRACTURE SYNDROME	PS253310	ClinVar, OMIM
TAP2	BARE LYMPHOCYTE SYNDROME, TYPE I	604571	ClinVar, OMIM
AHSG	NEPHROLITHIASIS, CALCIUM OXALATE	167030	ClinVar
ADGRG1	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	606854	ClinVar, OMIM, HUMSAVAR
MRAP2	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18	615457	ClinVar, OMIM
PRPS1	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
ZNF644	MYOPIA	PS160700	ClinVar, OMIM, HUMSAVAR
CLDN1	ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS	607626	OMIM
ADH1B	ALCOHOL DEPENDENCE	103780	ClinVar, OMIM
IARS2	LEIGH SYNDROME	256000	ClinVar
ERCC4	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F	278760	ClinVar, OMIM, HUMSAVAR
PIGT	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME	PS614080	ClinVar, OMIM, HUMSAVAR
ZSWIM6	ACROMELIC FRONTONASAL DYSOSTOSIS	603671	ClinVar, OMIM, HUMSAVAR
INS	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	613370	ClinVar, OMIM, HUMSAVAR
STAT4	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11	612253	ClinVar, OMIM
GRIN2B	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
DDIT3	MYXOID LIPOSARCOMA	613488	OMIM
ZBTB24	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES	PS242860	ClinVar, OMIM, HUMSAVAR
AHI1	JOUBERT SYNDROME	PS213300	ClinVar, OMIM, HUMSAVAR
HLA-A	SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO	608579	OMIM
ARL2BP	RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS	615434	OMIM, HUMSAVAR
BCKDHB	MAPLE SYRUP URINE DISEASE	PS248600	ClinVar, OMIM, HUMSAVAR
F13A1	THROMBOPHILIA	PS188050	OMIM
GALE	GALACTOSE EPIMERASE DEFICIENCY	230350	ClinVar, OMIM, HUMSAVAR
PCDH15	USHER SYNDROME	PS276900	ClinVar, OMIM, HUMSAVAR
FREM2	FRASER SYNDROME	219000	OMIM, HUMSAVAR
GDF5	CHONDRODYSPLASIA, GREBE TYPE	200700	ClinVar, OMIM, HUMSAVAR
LAMB1	LISSENCEPHALY	PS607432	ClinVar, OMIM
LMNA	PROGERIA	PS176670	ClinVar, OMIM, HUMSAVAR
SPRY4	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
CLN5	CEROID LIPOFUSCINOSES	PS256730	ClinVar, OMIM, HUMSAVAR
ATP5A1	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4	615228	ClinVar, OMIM, HUMSAVAR
NFIX	SOTOS SYNDROME	PS117550	ClinVar, OMIM, HUMSAVAR
CNTNAP1	LETHAL CONGENITAL CONTRACTURE SYNDROME	PS253310	ClinVar, OMIM
ATP2A2	ACROKERATOSIS VERRUCIFORMIS	101900	ClinVar, OMIM, HUMSAVAR
FZD6	HYDROPS FETALIS, NONIMMUNE	236750	ClinVar
GH1	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA	262400	ClinVar, OMIM
ESCO2	ROBERTS SYNDROME	268300	ClinVar, OMIM, HUMSAVAR
SLC1A1	DICARBOXYLIC AMINOACIDURIA	222730	ClinVar, OMIM, HUMSAVAR
SF3B4	ACROFACIAL DYSOSTOSIS 1, NAGER TYPE	154400	ClinVar, OMIM
DNAJC6	PARKINSON DISEASE	PS168600	ClinVar, OMIM
OCA2	OCULOCUTANEOUS ALBINISM	PS203100	ClinVar, OMIM, HUMSAVAR
TSC1	LYMPHANGIOLEIOMYOMATOSIS	606690	ClinVar, OMIM
GCNT2	BLOOD GROUP, I SYSTEM	110800	OMIM
DACT1	NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO	182940	HUMSAVAR
GRK1	NIGHT BLINDNESS, CONGENITAL STATIONARY	PS310500	ClinVar, OMIM, HUMSAVAR
COL1A1	CAFFEY DISEASE	114000	OMIM, HUMSAVAR
KCNT1	EPILEPSY, NOCTURNAL FRONTAL LOBE	PS600513	ClinVar, OMIM, HUMSAVAR
SCN4A	HYPERKALEMIC PERIODIC PARALYSIS	170500	ClinVar, OMIM, HUMSAVAR
ACO2	INFANTILE CEREBELLAR-RETINAL DEGENERATION	614559	ClinVar, OMIM, HUMSAVAR
SMARCB1	RHABDOID TUMOR PREDISPOSITION SYNDROME	PS609322	ClinVar, OMIM
AIP	PITUITARY ADENOMA, ACTH-SECRETING	219090	ClinVar, OMIM
CD46	HEMOLYTIC UREMIC SYNDROME	PS235400	ClinVar, OMIM, HUMSAVAR
DKC1	DYSKERATOSIS CONGENITA	PS127550	ClinVar, OMIM, HUMSAVAR
COG1	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	ClinVar, OMIM
THRA	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS	PS275200	ClinVar, OMIM, HUMSAVAR
TSPEAR	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	OMIM
ALMS1	ALSTROM SYNDROME	203800	ClinVar, OMIM
SNRNP200	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
OGDH	ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY	203740	OMIM
KCNJ11	HYPERINSULINEMIA HYPOGLYCEMIA	PS256450	ClinVar, OMIM, HUMSAVAR
SLC1A3	EPISODIC ATAXIA	PS160120	ClinVar, OMIM, HUMSAVAR
MAGEL2	SCHAAF-YANG SYNDROME	615547	ClinVar, OMIM
FLCN	PNEUMOTHORAX, PRIMARY SPONTANEOUS	173600	ClinVar, OMIM, HUMSAVAR
SQSTM1	PAGET DISEASE OF BONE	PS167250	ClinVar, OMIM, HUMSAVAR
SLC26A4	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
COL4A1	SCHIZENCEPHALY	269160	HUMSAVAR
DPM2	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
ATP8B1	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1	211600	ClinVar, OMIM, HUMSAVAR
CYB5R3	METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE	250800	OMIM, HUMSAVAR
PMS2	MISMATCH REPAIR CANCER SYNDROME	276300	ClinVar, OMIM, HUMSAVAR
SLC6A3	PARKINSONISM-DYSTONIA, INFANTILE	613135	ClinVar, OMIM, HUMSAVAR
FAM111A	GRACILE BONE DYSPLASIA	602361	ClinVar, OMIM, HUMSAVAR
PCSK1	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12	612362	ClinVar, OMIM
RNASEH2C	AICARDI-GOUTIERES SYNDROME	PS225750	ClinVar, OMIM, HUMSAVAR
CLDN19	HYPOMAGNESEMIA	PS602014	ClinVar, OMIM, HUMSAVAR
TMEM231	MECKEL SYNDROME	PS249000	ClinVar, OMIM, HUMSAVAR
HESX1	PITUITARY HORMONE DEFICIENCY, COMBINED	PS613038	OMIM, HUMSAVAR
GNAS	MCCUNE-ALBRIGHT SYNDROME	174800	ClinVar, OMIM, HUMSAVAR
LARS	INFANTILE LIVER FAILURE SYNDROME	PS615438	ClinVar, OMIM, HUMSAVAR
GLYCTK	D-GLYCERIC ACIDURIA	220120	ClinVar, OMIM, HUMSAVAR
CPS1	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO	237300	ClinVar, OMIM, HUMSAVAR
FGFR3	KERATOSIS, SEBORRHEIC	182000	HUMSAVAR
MT-ND5	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	HUMSAVAR
FOXC1	IRIDOGONIODYSGENESIS, TYPE 1	601631	ClinVar, OMIM, HUMSAVAR
LDB3	LEFT VENTRICULAR NONCOMPACTION	PS604169	ClinVar, OMIM, HUMSAVAR
SLC12A6	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY	218000	ClinVar, OMIM
PKP2	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	603829	ClinVar
SYN2	SCHIZOPHRENIA	181500	OMIM
KCNQ4	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
ING1	SQUAMOUS CELL CARCINOMA, HEAD AND NECK	275355	ClinVar, OMIM, HUMSAVAR
EGFR	LUNG CANCER	211980	OMIM
F2	STROKE, ISCHEMIC	601367	OMIM
CERS1	EPILEPSY, PROGRESSIVE MYOCLONIC	PS254800	ClinVar, OMIM, HUMSAVAR
IL36RN	PSORIASIS	PS177900	ClinVar, OMIM, HUMSAVAR
MYH6	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
AKAP10	CARDIAC CONDUCTION DEFECT	115080	OMIM
MEFV	FAMILIAL MEDITERRANEAN FEVER	249100	ClinVar, OMIM, HUMSAVAR
FTO	GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM	612938	ClinVar, OMIM, HUMSAVAR
SUFU	MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO	607174	OMIM
CISD2	WOLFRAM SYNDROME 2	604928	ClinVar, OMIM
CHRNA1	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	253290	ClinVar, OMIM, HUMSAVAR
MITF	WAARDENBURG SYNDROME	PS193500	ClinVar, OMIM, HUMSAVAR
FMO3	TRIMETHYLAMINURIA	602079	ClinVar, OMIM, HUMSAVAR
CD36	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
NLRP12	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME	PS120100	ClinVar, OMIM
HAX1	NEUTROPENIA, SEVERE CONGENITAL	PS202700	ClinVar, OMIM, HUMSAVAR
CFC1	HETEROTAXY, VISCERAL	PS306955	ClinVar, OMIM, HUMSAVAR
FAM161A	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM
EOGT	ADAMS-OLIVER SYNDROME	PS100300	ClinVar, OMIM, HUMSAVAR
FKTN	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B	PS613155	ClinVar, OMIM, HUMSAVAR
USP9X	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
HNF1A	DIABETES MELLITUS, INSULIN-DEPENDENT, 20	612520	ClinVar, OMIM, HUMSAVAR
MMP2	MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY	259600	ClinVar, OMIM, HUMSAVAR
PHOX2B	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	209880	ClinVar, OMIM, HUMSAVAR
EPB41L1	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
FOXP3	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	304790	ClinVar, OMIM, HUMSAVAR
LRP5	OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	259770	ClinVar, OMIM, HUMSAVAR
GJA1	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE	218400	ClinVar, OMIM, HUMSAVAR
PRNP	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	606688	OMIM, HUMSAVAR
NF2	NEUROFIBROMATOSIS, TYPE II	101000	ClinVar, OMIM, HUMSAVAR
PTPRO	NEPHROTIC SYNDROME	PS256300	ClinVar, OMIM
COL9A1	STICKLER SYNDROME	PS108300	ClinVar, OMIM
NUP205	NEPHROTIC SYNDROME	PS256300	ClinVar, OMIM
GNAS	PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1	102200	ClinVar, OMIM
CCDC78	MYOPATHY, CENTRONUCLEAR	PS160150	ClinVar, OMIM
PAX6	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT	120200	ClinVar, OMIM, HUMSAVAR
SLC6A5	HYPEREKPLEXIA 3	614618	ClinVar, OMIM, HUMSAVAR
LAMC2	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE	226700	ClinVar, OMIM
PIGA	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME	PS614080	ClinVar, OMIM, HUMSAVAR
BMPR1A	JUVENILE POLYPOSIS SYNDROME	174900	ClinVar, OMIM, HUMSAVAR
FRMD4A	CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA	616819	ClinVar, OMIM
SLFN14	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM
KRT85	ECTODERMAL DYSPLASIA (SELECT EXAMPLES)	PS305100	ClinVar, OMIM, HUMSAVAR
KCNH1	ZIMMERMANN-LABAND SYNDROME	PS135500	ClinVar, OMIM, HUMSAVAR
KPTN	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM
COL3A1	EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE	130020	ClinVar, HUMSAVAR
GLB1	MUCOPOLYSACCHARIDOSES	PS607014	ClinVar, OMIM, HUMSAVAR
IRX5	HAMAMY SYNDROME	611174	ClinVar, OMIM, HUMSAVAR
MMP1	PRETERM PREMATURE RUPTURE OF THE MEMBRANES	610504	ClinVar
L1CAM	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
MT-ND5	DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY	520100	OMIM
NF1	NEUROFIBROMATOSIS, TYPE I	162200	ClinVar, OMIM, HUMSAVAR
IRF6	POPLITEAL PTERYGIUM SYNDROME	119500	ClinVar, OMIM, HUMSAVAR
INPP5E	MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME	610156	ClinVar, OMIM
ABCB7	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	301310	ClinVar, OMIM, HUMSAVAR
SH2B3	MYELOFIBROSIS	254450	OMIM
ADAR	AICARDI-GOUTIERES SYNDROME	PS225750	ClinVar, OMIM, HUMSAVAR
PKP1	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME	604536	OMIM
GRXCR2	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
FLNA	CARDIAC VALVULAR DYSPLASIA, X-LINKED	314400	ClinVar, OMIM, HUMSAVAR
PDK3	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
BDNF	BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2	610269	ClinVar, OMIM
DNASE1L3	SYSTEMIC LUPUS ERYTHEMATOSUS 16	614420	OMIM
CRYBA1	CATARACT	PS116200	ClinVar, OMIM
TK2	MITOCHONDRIAL DNA DEPLETION SYNDROME	PS603041	ClinVar, OMIM, HUMSAVAR
GRIN1	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
CORIN	PREECLAMPSIA/ECLAMPSIA	PS189800	ClinVar, OMIM, HUMSAVAR
HAO1	NEPHROLITHIASIS, CALCIUM OXALATE	167030	ClinVar
UQCC3	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9	616111	ClinVar, OMIM, HUMSAVAR
ACTA2	AORTIC ANEURYSM, FAMILIAL THORACIC	PS607086	ClinVar, OMIM, HUMSAVAR
ACAN	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE	612813	OMIM, HUMSAVAR
AGBL1	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL	PS136800	ClinVar, OMIM, HUMSAVAR
PTEN	SQUAMOUS CELL CARCINOMA, HEAD AND NECK	275355	ClinVar, OMIM, HUMSAVAR
GJB6	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
FKBP10	OSTEOGENESIS IMPERFECTA	PS166200	ClinVar, OMIM
SART3	POROKERATOSIS	PS175800	ClinVar
YAP1	COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION	120433	ClinVar, OMIM
XPR1	BASAL GANGLIA CALCIFICATION, IDIOPATHIC	PS213600	ClinVar, OMIM, HUMSAVAR
SNAP29	CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME	609528	OMIM
SCNN1B	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE	264350	ClinVar, OMIM, HUMSAVAR
SLC16A1	ERYTHROCYTE LACTATE TRANSPORTER DEFECT	245340	ClinVar, OMIM, HUMSAVAR
GNA11	HYPOCALCIURIC HYPERCALCEMIA	PS145980	ClinVar, OMIM, HUMSAVAR
BMPR1B	BRACHYDACTYLY, TYPE A1, D	616849	ClinVar, OMIM
RSPH1	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM, HUMSAVAR
ABCG2	URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1	138900	ClinVar, OMIM
WDR62	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	ClinVar, OMIM, HUMSAVAR
CHMP1A	PONTOCEREBELLAR HYPOPLASIA	PS607596	ClinVar, OMIM
IL1RN	GASTRIC CANCER, HEREDITARY DIFFUSE	137215	OMIM
TWIST2	BARBER-SAY SYNDROME	209885	ClinVar, OMIM, HUMSAVAR
SYNE4	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	OMIM
KERA	CORNEA PLANA	PS121400	ClinVar, OMIM, HUMSAVAR
MID2	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
FBLN5	CUTIS LAXA, AUTOSOMAL DOMINANT 1	123700	ClinVar
CCDC28B	BARDET-BIEDL SYNDROME	PS209900	OMIM
CRYAB	MYOFIBRILLAR MYOPATHY	PS601419	ClinVar, OMIM, HUMSAVAR
SCNN1G	LIDDLE SYNDROME	177200	ClinVar, OMIM
KCNJ5	HYPERALDOSTERONISM, FAMILIAL, TYPE III	613677	ClinVar, OMIM, HUMSAVAR
EN2	AUTISM, SUSCEPTIBLITY TO	PS209850	ClinVar
BBS2	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM, HUMSAVAR
ST3GAL3	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM, HUMSAVAR
TLR1	LEPROSY, SUSCEPTIBILITY TO, 5	613223	ClinVar, OMIM
ABCC8	DIABETES MELLITUS, TRANSIENT NEONATAL, 2	610374	ClinVar, OMIM, HUMSAVAR
PCDH19	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
GATA5	AORTIC VALVE DISEASE	PS109730	ClinVar
BFSP1	CATARACT	PS116200	OMIM
SPR	DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY	612716	ClinVar, OMIM, HUMSAVAR
MT-ATP6	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3	500011	OMIM, HUMSAVAR
MAP3K1	46,XY SEX REVERSAL	PS400044	ClinVar, OMIM, HUMSAVAR
KIF5C	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS	PS614039	ClinVar, OMIM, HUMSAVAR
NDUFS1	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	540000	ClinVar
DCLRE1C	SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION	602450	OMIM, HUMSAVAR
SLC11A2	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	PS206100	ClinVar, OMIM, HUMSAVAR
CREBBP	RUBINSTEIN-TAYBI SYNDROME	PS180849	ClinVar, OMIM, HUMSAVAR
CX3CR1	CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1	607339	OMIM
AIFM1	DEAFNESS, X-LINKED	PS304500	ClinVar, OMIM
SMS	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
MSH2	MUIR-TORRE SYNDROME	158320	ClinVar, OMIM
DSG2	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	PS107970	ClinVar, OMIM, HUMSAVAR
ARFGEF2	PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE	608097	ClinVar, OMIM, HUMSAVAR
NPHP3	RENAL-HEPATIC-PANCREATIC DYSPLASIA	PS208540	ClinVar, OMIM, HUMSAVAR
CHRNA2	EPILEPSY, NOCTURNAL FRONTAL LOBE	PS600513	ClinVar, OMIM, HUMSAVAR
ABCG5	SITOSTEROLEMIA	210250	ClinVar, OMIM, HUMSAVAR
GALNT12	COLORECTAL CANCER, SUSCEPTIBILITY TO, 1	608812	ClinVar, OMIM, HUMSAVAR
CST3	CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED	105150	ClinVar, OMIM, HUMSAVAR
TBX1	CONOTRUNCAL HEART MALFORMATIONS	217095	OMIM, HUMSAVAR
VAPB	SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE	182980	OMIM, HUMSAVAR
FGFR2	APERT SYNDROME	101200	ClinVar, OMIM, HUMSAVAR
RAD51C	FANCONI ANEMIA	PS227650	ClinVar, OMIM, HUMSAVAR
CABP2	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
F5	PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1	614389	ClinVar, OMIM
LIM2	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
ALB	ANALBUMINEMIA	616000	ClinVar, OMIM
IQCB1	SENIOR-LOKEN SYNDROME 5	609254	ClinVar, OMIM
KCNK3	PULMONARY HYPERTENSION, PRIMARY	PS178600	ClinVar, OMIM, HUMSAVAR
USB1	POIKILODERMA WITH NEUTROPENIA	604173	ClinVar, OMIM
SCNN1G	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE	264350	ClinVar, OMIM
MIR17HG	FEINGOLD SYNDROME	PS164280	OMIM
THOC6	BEAULIEU-BOYCOTT-INNES SYNDROME	613680	ClinVar, OMIM, HUMSAVAR
NUP62	STRIATONIGRAL DEGENERATION, INFANTILE	271930	ClinVar, OMIM, HUMSAVAR
DYNC1H1	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
ABCB11	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2	605479	ClinVar, OMIM, HUMSAVAR
GATA6	ATRIAL SEPTAL DEFECT	PS108800	ClinVar, OMIM, HUMSAVAR
PDX1	PANCREATIC AGENESIS	PS260370	ClinVar, OMIM
KCNE1	JERVELL AND LANGE-NIELSEN SYNDROME 1	220400	ClinVar
CHRNA1	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
MEF2C	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
CEP290	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM
MMAB	METHYLMALONIC ACIDURIA, CBLB TYPE	251110	ClinVar, OMIM, HUMSAVAR
GBA2	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
CDKAL1	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM
POMT1	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
MAPT	PARKINSON DISEASE	PS168600	OMIM
KRAS	BLADDER CANCER	109800	OMIM
SLC12A1	BARTTER SYNDROME	PS601678	OMIM, HUMSAVAR
CYLD	TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1	601606	ClinVar, OMIM, HUMSAVAR
SOX9	46,XX SEX REVERSAL 2	278850	ClinVar
SLC30A10	HYPERMANGANESEMIA WITH DYSTONIA	PS613280	ClinVar, OMIM, HUMSAVAR
SUGCT	GLUTARIC ACIDURIA III	231690	ClinVar, OMIM, HUMSAVAR
SASS6	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	ClinVar, OMIM, HUMSAVAR
HCN1	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
CCR5	DIABETES MELLITUS, INSULIN-DEPENDENT, 22	612522	OMIM
NODAL	HETEROTAXY, VISCERAL	PS306955	ClinVar, OMIM, HUMSAVAR
APPL1	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14	616511	ClinVar, OMIM
FAS	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME	601859	ClinVar, OMIM, HUMSAVAR
ADAMTS2	EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE	225410	ClinVar, OMIM
CUL4B	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
C12orf65	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	OMIM
SERAC1	3-METHYLGLUTACONIC ACIDURIA	PS250950	ClinVar, OMIM, HUMSAVAR
PNP	PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY	613179	ClinVar, OMIM, HUMSAVAR
GLMN	GLOMUVENOUS MALFORMATIONS	138000	OMIM
HBA2	ALPHA-THALASSEMIA	604131	OMIM
SUFU	BASAL CELL NEVUS SYNDROME	109400	ClinVar, OMIM
NDUFA13	THYROID CARCINOMA, HURTHLE CELL	607464	ClinVar, OMIM
FSHR	OVARIAN HYPERSTIMULATION SYNDROME	608115	ClinVar, OMIM, HUMSAVAR
PAXIP1	ALZHEIMER DISEASE	104300	OMIM
MTHFR	HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	236250	ClinVar, OMIM, HUMSAVAR
APOB	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1	615558	OMIM, HUMSAVAR
LOXHD1	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
KIF11	MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION	152950	ClinVar, OMIM, HUMSAVAR
CFTR	VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF	277180	ClinVar, OMIM, HUMSAVAR
TRIM37	MULIBREY NANISM	253250	OMIM, HUMSAVAR
WFS1	WOLFRAM SYNDROME 1	222300	ClinVar, OMIM, HUMSAVAR
FGF14	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
IFNGR1	HEPATITIS B VIRUS, SUSCEPTIBILITY TO	610424	ClinVar, OMIM
TRAF3IP2	FAMILIAL CANDIDIASIS	PS114580	ClinVar, OMIM, HUMSAVAR
GPI	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	613470	OMIM, HUMSAVAR
SLC6A4	ANXIETY	607834	OMIM
HNF1B	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM, HUMSAVAR
PIGW	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME	PS239300	ClinVar, OMIM, HUMSAVAR
OPN1SW	TRITANOPIA	190900	ClinVar, OMIM, HUMSAVAR
NDUFV1	LEIGH SYNDROME	256000	HUMSAVAR
TRIM28	COLORECTAL CANCER	114500	ClinVar
KITLG	HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE	145250	ClinVar, OMIM, HUMSAVAR
CSTB	EPILEPSY, PROGRESSIVE MYOCLONIC	PS254800	ClinVar, OMIM, HUMSAVAR
SERPINA6	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	611489	ClinVar, OMIM, HUMSAVAR
TRAPPC9	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM
CR1	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
SIAE	AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6	613551	ClinVar, OMIM, HUMSAVAR
SKI	SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME	182212	ClinVar, OMIM, HUMSAVAR
KCNH2	SHORT QT SYNDROME	PS609620	ClinVar, OMIM, HUMSAVAR
NPR2	SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES	616255	ClinVar, OMIM, HUMSAVAR
COL18A1	KNOBLOCH SYNDROME 1	267750	ClinVar, OMIM
MT-ND3	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	HUMSAVAR
LZTR1	NOONAN SYNDROME	PS163950	ClinVar, OMIM, HUMSAVAR
CDH23	USHER SYNDROME	PS276900	ClinVar, OMIM, HUMSAVAR
EVC	SHORT-RIB THORACIC DYSPLASIA	PS208500	ClinVar, OMIM, HUMSAVAR
GNPTAB	MUCOPOLYSACCHARIDOSES	PS607014	ClinVar
SARDH	SARCOSINEMIA	268900	ClinVar, OMIM, HUMSAVAR
HPS6	HERMANSKY-PUDLAK SYNDROME	PS203300	ClinVar, OMIM
UBN1	HYDROPS FETALIS, NONIMMUNE	236750	ClinVar
CRYAB	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
EDA	ECTODERMAL DYSPLASIA (SELECT EXAMPLES)	PS305100	ClinVar, OMIM, HUMSAVAR
CTNS	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE	219900	ClinVar, OMIM, HUMSAVAR
ARMS2	MACULAR DEGENERATION, AGE-RELATED	PS603075	ClinVar, OMIM
GNPTG	MUCOLIPIDOSIS III GAMMA	252605	ClinVar, OMIM, HUMSAVAR
CACNB4	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9	607682	ClinVar, OMIM
ADAM9	CONE-ROD DYSTROPHY 9	612775	ClinVar, OMIM
RPL11	DIAMOND-BLACKFAN ANEMIA	PS105650	ClinVar, OMIM, HUMSAVAR
DLEC1	LUNG CANCER	211980	OMIM
FGFR2	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	609579	OMIM, HUMSAVAR
SH3GL1	LEUKEMIA, ACUTE MYELOID	601626	OMIM
IFNGR1	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	607948	OMIM
ISPD	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
IL1RN	OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS	612852	ClinVar, OMIM
B2M	AMYLOIDOSIS, FAMILIAL VISCERAL	105200	OMIM
CD40LG	IMMUNODEFICIENCY WITH HYPER-IGM	PS308230	ClinVar, OMIM, HUMSAVAR
WRN	WERNER SYNDROME	277700	ClinVar, OMIM, HUMSAVAR
AIFM1	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
SLC6A19	HYPERGLYCINURIA	138500	ClinVar, OMIM
KARS	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
GLI2	HOLOPROSENCEPHALY	PS236100	ClinVar, OMIM, HUMSAVAR
T	SACRAL AGENESIS WITH VERTEBRAL ANOMALIES	615709	ClinVar, OMIM, HUMSAVAR
STT3A	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
PEPD	PROLIDASE DEFICIENCY	170100	OMIM, HUMSAVAR
SLC1A4	SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY	616657	OMIM, HUMSAVAR
WDR45	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION	PS234200	ClinVar, OMIM
MT-CO3	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	540000	HUMSAVAR
CTLA4	SYSTEMIC LUPUS ERYTHEMATOSUS	152700	OMIM
HSD3B7	BILE ACID SYNTHESIS DEFECT, CONGENITAL	PS607765	ClinVar, OMIM, HUMSAVAR
POLG	MITOCHONDRIAL DNA DEPLETION SYNDROME	PS603041	ClinVar, OMIM, HUMSAVAR
PNKP	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
NPHP1	SENIOR-LOKEN SYNDROME 1	266900	OMIM
SLC52A1	RIBOFLAVIN DEFICIENCY	615026	OMIM
C9	MACULAR DEGENERATION, AGE-RELATED	PS603075	ClinVar, OMIM, HUMSAVAR
GRIA3	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
TAF1	DYSTONIA	PS128100	ClinVar, OMIM
HOXA13	HAND-FOOT-GENITAL SYNDROME	140000	ClinVar, OMIM, HUMSAVAR
SOX11	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
OPA1	NEPHROTIC SYNDROME	PS256300	ClinVar
FGA	AMYLOIDOSIS, FAMILIAL VISCERAL	105200	OMIM, HUMSAVAR
NFIX	MARSHALL-SMITH SYNDROME	602535	ClinVar, OMIM
FGFR2	ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	207410	ClinVar, OMIM, HUMSAVAR
SLC22A5	INFLAMMATORY BOWEL DISEASE	PS266600	ClinVar
MS4A1	IMMUNODEFICIENCY, COMMON VARIABLE	PS607594	OMIM
TP53	PAPILLOMA OF CHOROID PLEXUS	260500	ClinVar, OMIM
RXFP2	CRYPTORCHIDISM, UNILATERAL OR BILATERAL	219050	ClinVar, HUMSAVAR
MYH9	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
DHCR24	DESMOSTEROLOSIS	602398	OMIM, HUMSAVAR
SDHD	COWDEN DISEASE	PS158350	ClinVar, OMIM
HCN4	BRUGADA SYNDROME	PS601144	ClinVar, OMIM
SMIM1	BLOOD GROUP, VEL SYSTEM	615264	OMIM
ZNF423	JOUBERT SYNDROME	PS213300	ClinVar, OMIM, HUMSAVAR
CECR1	POLYARTERITIS NODOSA, CHILDHOOD-ONSET	615688	ClinVar, OMIM, HUMSAVAR
APP	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED	605714	ClinVar, OMIM, HUMSAVAR
ALDH18A1	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA	219150	ClinVar, OMIM, HUMSAVAR
WNT1	OSTEOGENESIS IMPERFECTA	PS166200	ClinVar, OMIM, HUMSAVAR
BCR	LEUKEMIA, CHRONIC MYELOID	608232	ClinVar, OMIM
TAZ	3-METHYLGLUTACONIC ACIDURIA	PS250950	ClinVar, OMIM, HUMSAVAR
PLA2G6	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION	PS234200	ClinVar, OMIM, HUMSAVAR
SLC5A1	GLUCOSE/GALACTOSE MALABSORPTION	606824	ClinVar, OMIM, HUMSAVAR
CACNA1C	CARDIAC ARRHYTHMIA	115000	ClinVar
IL31RA	AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS	PS105250	ClinVar, OMIM, HUMSAVAR
YARS	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
ARMC5	ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2	615954	ClinVar, OMIM, HUMSAVAR
FBLN1	SYNPOLYDACTYLY 2	608180	OMIM
ITPA	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM
AASS	SACCHAROPINURIA	268700	OMIM
TLL1	ATRIAL SEPTAL DEFECT	PS108800	ClinVar, OMIM, HUMSAVAR
SPTA1	PYROPOIKILOCYTOSIS, HEREDITARY	266140	ClinVar, OMIM, HUMSAVAR
EGR2	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
BBS7	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM, HUMSAVAR
COL12A1	ULLRICH CONGENITAL MUSCULAR DYSTROPHY	PS254090	ClinVar, OMIM
FADD	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS	613759	ClinVar, OMIM, HUMSAVAR
TPM1	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
ATIC	AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY	608688	ClinVar, OMIM, HUMSAVAR
LHCGR	PRECOCIOUS PUBERTY, MALE-LIMITED	176410	ClinVar, OMIM, HUMSAVAR
MSH6	ENDOMETRIAL CANCER	608089	OMIM
PRPS1	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
CANT1	DESBUQUOIS DYSPLASIA	PS251450	ClinVar, OMIM, HUMSAVAR
FGFR2	PFEIFFER SYNDROME	101600	ClinVar, OMIM, HUMSAVAR
CHEK2	BREAST CANCER	114480	OMIM, HUMSAVAR
EFNB1	CRANIOFRONTONASAL SYNDROME	304110	ClinVar, OMIM, HUMSAVAR
AMPD2	PONTOCEREBELLAR HYPOPLASIA	PS607596	ClinVar, OMIM, HUMSAVAR
C1GALT1C1	TN POLYAGGLUTINATION SYNDROME	300622	ClinVar, OMIM, HUMSAVAR
ASNS	ASPARAGINE SYNTHETASE DEFICIENCY	615574	ClinVar, OMIM, HUMSAVAR
FLCN	COLORECTAL CANCER	114500	OMIM
CISH	BACTEREMIA, SUSCEPTIBILITY TO, 2	614383	ClinVar, OMIM
NTRK2	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	613886	ClinVar, OMIM, HUMSAVAR
DCTN1	PERRY SYNDROME	168605	OMIM, HUMSAVAR
PER3	ADVANCED SLEEP PHASE SYNDROME	PS604348	ClinVar, OMIM
SLC7A7	LYSINURIC PROTEIN INTOLERANCE	222700	ClinVar, OMIM, HUMSAVAR
HOXC13	ECTODERMAL DYSPLASIA (SELECT EXAMPLES)	PS305100	ClinVar, OMIM
PLAGL1	DIABETES MELLITUS, TRANSIENT NEONATAL, 1	601410	OMIM
ABCG8	GALLBLADDER DISEASE	PS600803	ClinVar, OMIM
UNG	IMMUNODEFICIENCY WITH HYPER-IGM	PS308230	ClinVar, OMIM, HUMSAVAR
HMGB3	MICROPHTHALMIA, SYNDROMIC	PS309800	ClinVar, OMIM
MAMLD1	HYPOSPADIAS	PS300633	ClinVar, OMIM
CFHR1	MACULAR DEGENERATION, AGE-RELATED	PS603075	OMIM
APOA2	HYPERCHOLESTEROLEMIA, FAMILIAL	143890	ClinVar, OMIM
NLRC4	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS	616050	ClinVar, OMIM, HUMSAVAR
HSPD1	LEUKODYSTROPHY, HYPOMYELINATING	PS312080	ClinVar, OMIM, HUMSAVAR
PHKB	GLYCOGEN STORAGE DISEASE IXB	261750	ClinVar, OMIM, HUMSAVAR
HBB	SICKLE CELL ANEMIA	603903	OMIM, HUMSAVAR
NOD2	INFLAMMATORY BOWEL DISEASE	PS266600	OMIM
EPX	EOSINOPHIL PEROXIDASE DEFICIENCY	261500	ClinVar, OMIM, HUMSAVAR
CFH	BASAL LAMINAR DRUSEN	126700	ClinVar, OMIM
REST	WILMS TUMOR	PS194070	ClinVar, OMIM
ADCY10	HYPERCALCIURIA, ABSORPTIVE, 2	143870	OMIM
ACAD9	MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY	611126	ClinVar, OMIM, HUMSAVAR
PTCH2	BASAL CELL NEVUS SYNDROME	109400	ClinVar, OMIM
SAMHD1	CHILBLAIN LUPUS	PS610448	ClinVar, OMIM, HUMSAVAR
RDH12	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM, HUMSAVAR
ADCY6	LETHAL CONGENITAL CONTRACTURE SYNDROME	PS253310	ClinVar, OMIM, HUMSAVAR
TAF2	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM, HUMSAVAR
WDR81	CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM	PS224050	ClinVar, OMIM, HUMSAVAR
CNGA1	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
COG6	SHAHEEN SYNDROME	615328	ClinVar, OMIM
INVS	NEPHRONOPHTHISIS	PS256100	ClinVar, OMIM, HUMSAVAR
FLNB	LARSEN SYNDROME	150250	ClinVar, OMIM, HUMSAVAR
ZMPSTE24	RESTRICTIVE DERMOPATHY, LETHAL	275210	OMIM
ILDR1	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
TTN	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	603829	ClinVar
ITGB6	AMELOGENESIS IMPERFECTA	PS104500	ClinVar, OMIM, HUMSAVAR
BCOR	MICROPHTHALMIA, SYNDROMIC	PS309800	ClinVar, OMIM, HUMSAVAR
APBB2	ALZHEIMER DISEASE	104300	OMIM
DES	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM
ALG12	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
ERCC3	TRICHOTHIODYSTROPHY	PS601675	ClinVar, OMIM, HUMSAVAR
CFAP53	HETEROTAXY, VISCERAL	PS306955	ClinVar, OMIM
CDKN1C	INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES	614732	OMIM, HUMSAVAR
GUCY2D	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM, HUMSAVAR
UBR1	JOHANSON-BLIZZARD SYNDROME	243800	ClinVar, OMIM, HUMSAVAR
BCL10	TESTICULAR GERM CELL TUMOR	273300	ClinVar
SCNN1G	BRONCHIECTASIS	PS211400	ClinVar, OMIM
RMRP	CARTILAGE-HAIR HYPOPLASIA	250250	ClinVar, OMIM
COG6	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	ClinVar, OMIM, HUMSAVAR
ATOH7	PERSISTENT HYPERPLASTIC PRIMARY VITREOUS	PS221900	ClinVar, OMIM, HUMSAVAR
PRSS1	PANCREATITIS, HEREDITARY	167800	ClinVar, OMIM, HUMSAVAR
GJB3	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
ENAM	AMELOGENESIS IMPERFECTA	PS104500	ClinVar, OMIM, HUMSAVAR
TBC1D7	MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE	248000	OMIM
CNGA3	ACHROMATOPSIA 2	216900	ClinVar, OMIM, HUMSAVAR
PRPH2	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
BMPR2	PULMONARY VENOOCCLUSIVE DISEASE	PS265450	OMIM
KRT14	DERMATOPATHIA PIGMENTOSA RETICULARIS	125595	ClinVar, OMIM
EIF2B3	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	603896	ClinVar, OMIM, HUMSAVAR
FLG	DERMATITIS, ATOPIC	PS603165	OMIM
PLAT	THROMBOPHILIA	PS188050	OMIM
RAX2	MACULAR DEGENERATION, AGE-RELATED	PS603075	ClinVar, OMIM, HUMSAVAR
TRPV3	PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES	614594	ClinVar, OMIM, HUMSAVAR
AMBN	AMELOGENESIS IMPERFECTA, TYPE IF	616270	OMIM
SDHB	CARNEY TRIAD	604287	ClinVar
CSF2RA	SUFACTANT METABOLISM DYSFUNCTION, PULMONARY	PS265120	OMIM, HUMSAVAR
TFE3	RENAL CELL CARCINOMA, XP11-ASSOCIATED	300854	OMIM
CC2D2A	JOUBERT SYNDROME	PS213300	ClinVar, OMIM, HUMSAVAR
COL7A1	EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS	132000	ClinVar, OMIM
CRX	CONE-ROD DYSTROPHY 2	120970	ClinVar, OMIM, HUMSAVAR
SEC23B	COWDEN DISEASE	PS158350	ClinVar, OMIM
AHCY	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	613752	OMIM, HUMSAVAR
CYP3A5	HYPERTENSION, ESSENTIAL	145500	OMIM
FOXP2	SPEECH-LANGUAGE DISORDER 1	602081	ClinVar, OMIM, HUMSAVAR
FTL	HYPERFERRITINEMIA WITH OR WITHOUT CATARACT	600886	ClinVar, OMIM, HUMSAVAR
MT-CO2	MITOCHONDRIAL COMPLEX IV DEFICIENCY	220110	HUMSAVAR
FGFR2	SAETHRE-CHOTZEN SYNDROME	101400	OMIM
LGR4	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17	615311	ClinVar, OMIM
MED12	LUJAN-FRYNS SYNDROME	309520	OMIM, HUMSAVAR
HLA-B	SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO	608579	OMIM
SDHB	PARAGANGLIOMAS	PS168000	ClinVar, OMIM, HUMSAVAR
NMNAT1	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM, HUMSAVAR
CAD	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
GCH1	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	233910	ClinVar, OMIM, HUMSAVAR
XK	MCLEOD SYNDROME	300842	ClinVar, OMIM, HUMSAVAR
EFHC1	EPILEPSY, MYOCLONIC JUVENILE	254770	OMIM, HUMSAVAR
ABCA1	HYPOALPHALIPOPROTEINEMIA, PRIMARY	604091	ClinVar, OMIM, HUMSAVAR
MIP	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
SERPINB6	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
PLA2G2A	COLORECTAL CANCER	114500	OMIM
ABCC6	PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE	177850	OMIM
ZEB2	MOWAT-WILSON SYNDROME	235730	ClinVar, OMIM, HUMSAVAR
TRNT1	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY	616084	ClinVar, OMIM, HUMSAVAR
SDCCAG8	SENIOR-LOKEN SYNDROME 7	613615	ClinVar, OMIM
LARGE1	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	PS236670	ClinVar, OMIM, HUMSAVAR
TWIST2	FOCAL FACIAL DERMAL DYSPLASIA	PS136500	ClinVar, OMIM, HUMSAVAR
CCDC174	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION	616816	ClinVar, OMIM
MTHFR	GASTROINTESTINAL STROMAL TUMOR	606764	ClinVar
DLAT	PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY	PS312170	ClinVar, OMIM
KIF2A	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS	PS614039	ClinVar, OMIM, HUMSAVAR
SMARCA4	RHABDOID TUMOR PREDISPOSITION SYNDROME	PS609322	ClinVar, OMIM
CD19	IMMUNODEFICIENCY, COMMON VARIABLE	PS607594	OMIM
VPS13B	COHEN SYNDROME	216550	ClinVar, OMIM, HUMSAVAR
PAX4	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9	612225	ClinVar, OMIM, HUMSAVAR
SOX10	WAARDENBURG SYNDROME	PS193500	ClinVar, OMIM, HUMSAVAR
CDC6	MEIER-GORLIN SYNDROME	PS224690	ClinVar, OMIM, HUMSAVAR
SLURP1	MAL DE MELEDA	248300	ClinVar, OMIM, HUMSAVAR
SETX	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	606002	ClinVar, OMIM, HUMSAVAR
GYPB	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
NTHL1	FAMAILIAL ADENOMATOUS POLYPOSIS	PS175100	ClinVar, OMIM
AHDC1	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	OMIM
PIGO	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME	PS239300	ClinVar, OMIM, HUMSAVAR
VPS37A	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
DSG4	HYPOTRICHOSIS	PS605389	ClinVar, OMIM
AP1S3	PSORIASIS	PS177900	ClinVar, OMIM, HUMSAVAR
MUSK	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
TGFBI	CORNEAL DYSTROPHY, AVELLINO TYPE	607541	ClinVar, OMIM, HUMSAVAR
MET	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
SCN1B	ATRIAL FIBRILLATION, FAMILIAL	PS608583	ClinVar, OMIM, HUMSAVAR
DYNC1H1	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
TREX1	VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY	192315	ClinVar, OMIM
CD8A	CD8 DEFICIENCY, FAMILIAL	608957	OMIM, HUMSAVAR
TBX22	CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED	303400	OMIM, HUMSAVAR
CACNA1S	THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1	188580	ClinVar, OMIM
SHH	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	147250	ClinVar, OMIM, HUMSAVAR
C5	ECULIZUMAB, POOR RESPONSE TO	615749	OMIM
ACVR1B	PANCREATIC CANCER	260350	OMIM
CNTN2	EPILEPSY, FAMILIAL ADULT MYOCLONIC	PS601068	OMIM
HADH	3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY	231530	OMIM, HUMSAVAR
ATP7A	SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3	300489	ClinVar, OMIM, HUMSAVAR
DOLK	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
UNC80	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES	PS615419	ClinVar, OMIM
IL2RA	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY	606367	ClinVar, OMIM, HUMSAVAR
SMARCE1	MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO	607174	OMIM
POLR3B	LEUKODYSTROPHY, HYPOMYELINATING	PS312080	ClinVar, OMIM, HUMSAVAR
COX4I2	EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS	612714	OMIM, HUMSAVAR
RYR2	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	603829	ClinVar
SRD5A2	PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS	264600	ClinVar, OMIM, HUMSAVAR
COG5	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	ClinVar, OMIM
STAT3	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET	PS615952	ClinVar, OMIM, HUMSAVAR
TTC19	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2	615157	ClinVar, OMIM
EXT1	CHONDROSARCOMA	215300	OMIM, HUMSAVAR
IGFALS	ACID-LABILE SUBUNIT DEFICIENCY	615961	ClinVar, OMIM, HUMSAVAR
OGG1	RENAL CELL CARCINOMA, NONPAPILLARY	144700	OMIM
TBX22	ABRUZZO-ERICKSON SYNDROME	302905	ClinVar, OMIM
CRELD1	ATRIOVENTRICULAR SEPTAL DEFECT	PS606215	ClinVar, OMIM, HUMSAVAR
SLC16A2	ALLAN-HERNDON-DUDLEY SYNDROME	300523	ClinVar, OMIM, HUMSAVAR
UBIAD1	SCHNYDER CORNEAL DYSTROPHY	121800	ClinVar, OMIM, HUMSAVAR
RAD51	MIRROR MOVEMENTS	PS157600	ClinVar, OMIM
AGPAT2	LIPODYSTROPHY, CONGENITAL GENERALIZED	PS608594	ClinVar, OMIM, HUMSAVAR
RYR2	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	PS604772	ClinVar, OMIM, HUMSAVAR
GUCA1A	CONE DYSTROPHY 3	602093	ClinVar, OMIM, HUMSAVAR
LBR	PELGER-HUET ANOMALY	169400	ClinVar, OMIM, HUMSAVAR
PLEC	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	OMIM
IGF1	INSULIN-LIKE GROWTH FACTOR I DEFICIENCY	608747	OMIM
KCNE2	ATRIAL FIBRILLATION, FAMILIAL	PS608583	ClinVar, OMIM, HUMSAVAR
CARD9	FAMILIAL CANDIDIASIS	PS114580	ClinVar, OMIM, HUMSAVAR
RBM20	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	603829	ClinVar
CCND2	MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME	PS603387	ClinVar, OMIM, HUMSAVAR
SDHD	MITOCHONDRIAL COMPLEX II DEFICIENCY	252011	OMIM, HUMSAVAR
PNPLA6	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
ALG2	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
CHRNA3	SMOKING AS A QUANTITATIVE TRAIT LOCUS 3	612052	ClinVar, OMIM
HBA1	ALPHA-THALASSEMIA	604131	OMIM
WAS	THROMBOCYTOPENIA 1	313900	ClinVar, OMIM, HUMSAVAR
RGS9	PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION	608415	ClinVar, OMIM, HUMSAVAR
NGLY1	CONGENITAL DISORDER OF DEGLYCOSYLATION	615273	ClinVar, OMIM
SDHB	GASTROINTESTINAL STROMAL TUMOR	606764	ClinVar, OMIM
MUC5B	PULMONARY FIBROSIS, IDIOPATHIC	178500	ClinVar, OMIM
CENPE	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	ClinVar, OMIM, HUMSAVAR
TYR	WAARDENBURG SYNDROME	PS193500	OMIM
LZTFL1	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM, HUMSAVAR
CCDC115	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	ClinVar, OMIM, HUMSAVAR
FUT1	BOMBAY PHENOTYPE	616754	OMIM
HARS2	PERRAULT SYNDROME	PS233400	ClinVar, OMIM, HUMSAVAR
APOE	SEA-BLUE HISTIOCYTE DISEASE	269600	OMIM
GNPAT	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA	PS215100	ClinVar, OMIM, HUMSAVAR
SLC9A6	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM
BEST1	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
ECHS1	MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY	616277	ClinVar, OMIM, HUMSAVAR
COL2A1	SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE	616583	ClinVar, OMIM, HUMSAVAR
COL3A1	MARFAN SYNDROME	154700	ClinVar
ABCD1	ADRENOLEUKODYSTROPHY	300100	ClinVar, OMIM, HUMSAVAR
PEX7	PEROXISOME BIOGENESIS DISORDER	PS214100	ClinVar, OMIM, HUMSAVAR
PLAU	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM
PAFAH1B1	LISSENCEPHALY	PS607432	ClinVar, OMIM, HUMSAVAR
FIG4	POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL	612691	ClinVar, OMIM, HUMSAVAR
AR	HYPOSPADIAS	PS300633	ClinVar, OMIM
C3AR1	HEMOLYTIC UREMIC SYNDROME	PS235400	ClinVar
WDR19	NEPHRONOPHTHISIS	PS256100	ClinVar, OMIM, HUMSAVAR
HBB	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1	141749	OMIM
GPD2	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM
FGFR2	BEARE-STEVENSON CUTIS GYRATA SYNDROME	123790	ClinVar, OMIM, HUMSAVAR
GNAS	PSEUDOHYPOPARATHYROIDISM, TYPE IC	612462	ClinVar, OMIM, HUMSAVAR
NOS1AP	CARDIAC ARRHYTHMIA	115000	ClinVar
SUMO4	DIABETES MELLITUS, INSULIN-DEPENDENT, 5	600320	ClinVar, OMIM
MT-ND6	LEBER OPTIC ATROPHY AND DYSTONIA	500001	OMIM, HUMSAVAR
HEXA	TAY-SACHS DISEASE	272800	ClinVar, OMIM, HUMSAVAR
TSPAN7	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
MCM8	PREMATURE OVARIAN FAILURE 10	612885	ClinVar, OMIM, HUMSAVAR
CA12	HYPERCHLORHIDROSIS, ISOLATED	143860	OMIM, HUMSAVAR
MPDU1	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
TMEM138	JOUBERT SYNDROME	PS213300	ClinVar, OMIM, HUMSAVAR
ALS2	PRIMARY LATERAL SCLEROSIS, JUVENILE	606353	ClinVar, OMIM
MT-ND1	LEBER OPTIC ATROPHY	535000	HUMSAVAR
NLRP5	OCULOECTODERMAL SYNDROME	600268	ClinVar
DICER1	RHABDOMYOSARCOMA, EMBRYONAL, 2	180295	OMIM
HEPACAM	LEUKOENCEPHALOPATHY, MEGALENCEPHALIC	PS604004	ClinVar, OMIM, HUMSAVAR
TMPRSS15	ENTEROKINASE DEFICIENCY	226200	ClinVar, OMIM
TM4SF20	SPECIFIC LANGUAGE IMPAIRMENT	PS606711	OMIM
SLC7A9	CYSTINURIA	220100	ClinVar, OMIM, HUMSAVAR
PIGA	PAROXYSMAL NOCTURNAL HEMOGLOBINURIA	PS300818	ClinVar, OMIM, HUMSAVAR
CYP11B2	CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY	610600	ClinVar, OMIM, HUMSAVAR
ITPKC	KAWASAKI DISEASE	611775	OMIM
OLR1	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	608446	OMIM
SHH	SCHIZENCEPHALY	269160	OMIM
DSPP	DENTIN DYSPLASIA, TYPE II	125420	ClinVar, OMIM, HUMSAVAR
CPA6	SEIZURES, FAMILIAL FEBRILE	PS121210	ClinVar, OMIM, HUMSAVAR
PKP2	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	PS107970	ClinVar, OMIM, HUMSAVAR
SLC4A1	BLOOD GROUP--SWANN SYSTEM	601550	OMIM
SBF2	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM
PTPRJ	COLORECTAL CANCER	114500	OMIM
DDOST	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
TLR5	MELIOIDOSIS, SUSCEPTIBILITY TO	615557	OMIM
NDUFS7	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	HUMSAVAR
SYP	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
KIF1A	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
SCNN1A	BRONCHIECTASIS	PS211400	ClinVar, OMIM, HUMSAVAR
LMBR1	SYNDACTYLY, TYPE IV	186200	ClinVar, OMIM
RPL5	DIAMOND-BLACKFAN ANEMIA	PS105650	ClinVar, OMIM, HUMSAVAR
KISS1R	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
IL10RB	INFLAMMATORY BOWEL DISEASE	PS266600	ClinVar, OMIM
CSF2RAY	SUFACTANT METABOLISM DYSFUNCTION, PULMONARY	PS265120	ClinVar
AIRE	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA	240300	ClinVar, OMIM, HUMSAVAR
SETBP1	JUVENILE MYELOMONOCYTIC LEUKEMIA	607785	HUMSAVAR
GUCY2C	MECONIUM ILEUS	614665	OMIM, HUMSAVAR
FLNC	MYOFIBRILLAR MYOPATHY	PS601419	ClinVar, OMIM
MT-TL1	MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS	545000	OMIM
C1S	COMPLEMENT COMPONENT C1S DEFICIENCY	613783	OMIM
KRT6B	PACHYONYCHIA CONGENITA	PS167200	ClinVar, OMIM, HUMSAVAR
TSR2	DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS	606164	ClinVar
EXT2	EXOSTOSES, MULTIPLE, TYPE II	133701	ClinVar, OMIM, HUMSAVAR
BBS4	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM, HUMSAVAR
FCGR2B	SYSTEMIC LUPUS ERYTHEMATOSUS	152700	OMIM
MTFMT	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
PDGFB	MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO	607174	OMIM
CRYBB3	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
FOXO1	RHABDOMYOSARCOMA 2	268220	OMIM
GABRG2	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2	607681	ClinVar, OMIM, HUMSAVAR
ERMAP	RADIN BLOOD GROUP ANTIGEN	111620	OMIM
VWF	VON WILLEBRAND DISEASE, TYPE 3	277480	OMIM, HUMSAVAR
AKT1	OVARIAN CANCER	167000	OMIM
PIGG	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar
CFL2	NEMALINE MYOPATHY	PS161800	ClinVar, OMIM, HUMSAVAR
RAF1	NOONAN SYNDROME	PS163950	ClinVar, OMIM, HUMSAVAR
DNM2	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
SEPT9	AMYOTROPHY, HEREDITARY NEURALGIC	162100	ClinVar, OMIM, HUMSAVAR
EDNRB	ABCD SYNDROME	600501	ClinVar, OMIM
FAH	TYROSINEMIA	PS276700	ClinVar, OMIM, HUMSAVAR
GMNN	MEIER-GORLIN SYNDROME	PS224690	ClinVar, OMIM
IL17RC	FAMILIAL CANDIDIASIS	PS114580	OMIM
BSCL2	LIPODYSTROPHY, CONGENITAL GENERALIZED	PS608594	ClinVar, OMIM, HUMSAVAR
TERT	LEUKEMIA, ACUTE MYELOID	601626	ClinVar, OMIM
BSG	BLOOD GROUP--OK	111380	OMIM
MLLT11	JUVENILE MYELOMONOCYTIC LEUKEMIA	607785	OMIM
GCM2	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	146200	ClinVar, OMIM, HUMSAVAR
GIF	INTRINSIC FACTOR DEFICIENCY	261000	ClinVar, OMIM, HUMSAVAR
CHST14	EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1	601776	ClinVar, OMIM, HUMSAVAR
BMP4	OROFACIAL CLEFT	PS119530	ClinVar, OMIM, HUMSAVAR
MEOX1	KLIPPEL-FEIL SYNDROME	PS118100	ClinVar, OMIM
CLCNKB	BARTTER SYNDROME	PS601678	ClinVar, OMIM, HUMSAVAR
EDN3	WAARDENBURG SYNDROME	PS193500	ClinVar, OMIM, HUMSAVAR
PABPN1	OCULOPHARYNGEAL MUSCULAR DYSTROPHY	164300	ClinVar, OMIM
DNAH1	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar
TP53	LI-FRAUMENI SYNDROME	PS151623	ClinVar, OMIM, HUMSAVAR
PLA2G7	IGE RESPONSIVENESS, ATOPIC	147050	OMIM
CRYGB	CATARACT	PS116200	OMIM
SOX5	LAMB-SHAFFER SYNDROME	616803	ClinVar, OMIM
PDX1	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4	606392	ClinVar, OMIM, HUMSAVAR
CHRNG	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	253290	ClinVar, OMIM, HUMSAVAR
CFI	HEMOLYTIC UREMIC SYNDROME	PS235400	ClinVar, OMIM, HUMSAVAR
GLRX5	SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA	616859	ClinVar, OMIM
VEGFC	LYMPHEDEMA, HEREDITARY	PS153100	ClinVar, OMIM
PDSS1	COENZYME Q10 DEFICIENCY, PRIMARY	PS607426	ClinVar, OMIM, HUMSAVAR
CP	ACERULOPLASMINEMIA	604290	OMIM
AQP7	GLYCEROL QUANTITATIVE TRAIT LOCUS	614411	ClinVar, OMIM
TICAM1	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED	PS610551	ClinVar, OMIM, HUMSAVAR
GATA1	DOWN SYNDROME	190685	OMIM
FLVCR1	POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA	609033	ClinVar, OMIM, HUMSAVAR
TBX5	HEART, MALFORMATION OF	140500	ClinVar
HP	ANHAPTOGLOBINEMIA	614081	ClinVar, OMIM, HUMSAVAR
KCNA2	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
GSN	AMYLOIDOSIS, FINNISH TYPE	105120	OMIM, HUMSAVAR
ZIC2	HOLOPROSENCEPHALY	PS236100	ClinVar, OMIM, HUMSAVAR
GLCCI1	GLUCOCORTICOID THERAPY, RESPONSE TO	614400	ClinVar, OMIM
CDSN	PEELING SKIN SYNDROME	PS270300	ClinVar, OMIM
SOX18	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME	607823	ClinVar, OMIM, HUMSAVAR
INS	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	125852	ClinVar, OMIM, HUMSAVAR
RMRP	ANAUXETIC DYSPLASIA	607095	OMIM
MAPK8IP1	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM, HUMSAVAR
CPT2	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED	PS610551	ClinVar, OMIM
RYR1	MALIGNANT HYPERTHERMIA	PS145600	ClinVar, OMIM, HUMSAVAR
ERBB2	GLIOMA	PS137800	ClinVar, OMIM
OTOF	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
ROBO3	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	607313	ClinVar, OMIM, HUMSAVAR
PNPLA1	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE	PS242300	ClinVar, OMIM, HUMSAVAR
KCNH2	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	603829	ClinVar
SMO	BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1	605462	OMIM
SCN11A	FAMILIAL EPISODIC PAIN SYNDROME	PS615040	ClinVar, OMIM, HUMSAVAR
FGFR3	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	612247	ClinVar, OMIM, HUMSAVAR
NCF1	GRANULOMATOUS DISEASE, CHRONIC	PS306400	ClinVar, OMIM, HUMSAVAR
ABCC8	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM
NEUROD1	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM
COQ6	COENZYME Q10 DEFICIENCY, PRIMARY	PS607426	ClinVar, OMIM, HUMSAVAR
TBC1D24	DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME	220500	ClinVar, OMIM, HUMSAVAR
MYO9B	CELIAC DISEASE	PS212750	ClinVar, OMIM
BTK	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	307200	ClinVar, OMIM
TBX3	ULNAR-MAMMARY SYNDROME	181450	ClinVar, OMIM, HUMSAVAR
FMR1	FRAGILE X TREMOR/ATAXIA SYNDROME	300623	ClinVar, OMIM
TMC1	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
PRKAR1A	CARNEY COMPLEX, TYPE 1	160980	ClinVar, OMIM, HUMSAVAR
LTBP2	GLAUCOMA, PRIMARY OPEN ANGLE	137760	ClinVar
ITGAM	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6	609939	OMIM
OR2J3	C3HEX, ABILITY TO SMELL	615082	OMIM
UNC93B1	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED	PS610551	ClinVar, OMIM
TOPORS	RETINITIS PIGMENTOSA	PS268000	OMIM
TMEM43	EMERY-DREIFUSS MUSCULAR DYSTROPHY	PS310300	ClinVar, OMIM, HUMSAVAR
JAG1	TETRALOGY OF FALLOT	187500	ClinVar, OMIM, HUMSAVAR
MED25	BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME	616449	ClinVar, OMIM, HUMSAVAR
PNPO	PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY	610090	ClinVar, OMIM, HUMSAVAR
LYRM4	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
TG	AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3	608175	ClinVar, OMIM
MGME1	MITOCHONDRIAL DNA DEPLETION SYNDROME	PS603041	ClinVar, OMIM, HUMSAVAR
KDM1A	CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES	616728	ClinVar, OMIM
LHFPL5	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
IRF5	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10	612251	ClinVar, OMIM
TMEM231	JOUBERT SYNDROME	PS213300	ClinVar, OMIM, HUMSAVAR
ABCC6	GENERALIZED ARTERIAL CALCIFICATION OF INFANCY	PS208000	ClinVar, OMIM, HUMSAVAR
VHL	ERYTHROCYTOSIS, FAMILIAL	PS133100	ClinVar, OMIM, HUMSAVAR
DEPDC5	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI	604364	ClinVar, OMIM, HUMSAVAR
SNRPB	CEREBROCOSTOMANDIBULAR SYNDROME	117650	ClinVar, OMIM, HUMSAVAR
H6PD	CORTISONE REDUCTASE DEFICIENCY	PS604931	ClinVar, OMIM, HUMSAVAR
DPY19L2	SPERMATOGENIC FAILURE	PS258150	ClinVar, OMIM
DLL4	ADAMS-OLIVER SYNDROME	PS100300	ClinVar, OMIM
TFAP2A	BRANCHIOOCULOFACIAL SYNDROME	113620	ClinVar, OMIM, HUMSAVAR
TMEM43	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	PS107970	ClinVar, OMIM, HUMSAVAR
PIGM	GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY	610293	OMIM
BAP1	TUMOR PREDISPOSITION SYNDROME	614327	ClinVar, OMIM
HSPB1	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
HMGCS2	3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE-2 DEFICIENCY	605911	ClinVar, OMIM, HUMSAVAR
CFTR	PANCREATITIS, HEREDITARY	167800	ClinVar, OMIM
HLA-C	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	OMIM
TPH2	MAJOR DEPRESSIVE DISORDER	608516	OMIM
TNFRSF1A	MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO	PS126200	ClinVar, OMIM
BLOC1S6	HERMANSKY-PUDLAK SYNDROME	PS203300	ClinVar, OMIM
TMEM98	NANOPHTHALMOS	PS600165	ClinVar, OMIM, HUMSAVAR
L2HGDH	L-2-HYDROXYGLUTARIC ACIDURIA	236792	ClinVar, OMIM, HUMSAVAR
TANGO2	METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION	616878	ClinVar, OMIM
MT-ND4L	DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY	520100	OMIM
MYH11	MARFAN SYNDROME	154700	ClinVar
DRD4	ATTENTION DEFICIT-HYPERACTIVITY DISORDER	143465	OMIM
CNTNAP2	AUTISM, SUSCEPTIBLITY TO	PS209850	ClinVar, OMIM
PRNP	HUNTINGTON DISEASE-LIKE 1	603218	ClinVar, OMIM
F5	BUDD-CHIARI SYNDROME	600880	OMIM
SLC33A1	CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION	614482	ClinVar, OMIM, HUMSAVAR
SCN4B	LONG QT SYNDROME	PS192500	ClinVar, OMIM, HUMSAVAR
MARS2	SPASTIC ATAXIA	PS108600	ClinVar, OMIM
SUMO1	OROFACIAL CLEFT	PS119530	OMIM
H19	WILMS TUMOR	PS194070	ClinVar, OMIM
MAFB	MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME	166300	ClinVar, OMIM, HUMSAVAR
DARS	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY	615281	ClinVar, OMIM, HUMSAVAR
MT-ND6	ONCOCYTOMA	553000	OMIM
BLM	BLOOM SYNDROME	210900	ClinVar, OMIM, HUMSAVAR
MAPT	PARKINSON-DEMENTIA SYNDROME	260540	OMIM
MTTP	SPASTIC ATAXIA	PS108600	OMIM
AGRN	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
LDB3	MYOFIBRILLAR MYOPATHY	PS601419	ClinVar, OMIM
NLRP3	CINCA SYNDROME	607115	ClinVar, OMIM, HUMSAVAR
CD4	OKT4 EPITOPE DEFICIENCY	613949	ClinVar, OMIM
BRWD3	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
MMAA	METHYLMALONIC ACIDURIA, CBLB TYPE	251110	ClinVar
ITPR2	ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS	106190	ClinVar, OMIM, HUMSAVAR
SLC25A22	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
WNT10A	SCHOPF-SCHULZ-PASSARGE SYNDROME	224750	ClinVar, OMIM
NDUFAF6	LEIGH SYNDROME	256000	OMIM
ABCA1	HYPERCHOLESTEROLEMIA, FAMILIAL	143890	OMIM
LARGE1	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B	PS613155	ClinVar, OMIM, HUMSAVAR
FGB	AFIBRINOGENEMIA, CONGENITAL	202400	OMIM, HUMSAVAR
ADA	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	102700	ClinVar, OMIM, HUMSAVAR
TNNT2	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
POLH	XERODERMA PIGMENTOSUM, VARIANT TYPE	278750	ClinVar, OMIM, HUMSAVAR
GDF3	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT	120200	ClinVar
KMT2A	WIEDEMANN-STEINER SYNDROME	605130	ClinVar, OMIM
GNAS	PSEUDOPSEUDOHYPOPARATHYROIDISM	612463	ClinVar, OMIM
IL10RA	INFLAMMATORY BOWEL DISEASE	PS266600	OMIM, HUMSAVAR
FOXN1	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	601705	OMIM
SERPINC1	TUBEROUS SCLEROSIS	PS191100	ClinVar
WFS1	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
CACNA1C	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	603829	ClinVar
DHS6S1	MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE	136550	OMIM
DNA2	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MTDNA DELETIONS	PS157640	ClinVar, OMIM, HUMSAVAR
DNAAF5	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM, HUMSAVAR
ALG1	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
DICER1	GOITER, MULTINODULAR	PS138800	ClinVar, OMIM, HUMSAVAR
AKT2	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM, HUMSAVAR
SDHC	GASTROINTESTINAL STROMAL TUMOR	606764	ClinVar, OMIM
FGFR1	HARTSFIELD SYNDROME	615465	OMIM, HUMSAVAR
SC5D	LATHOSTEROLOSIS	607330	OMIM, HUMSAVAR
KAT6B	GENITOPATELLAR SYNDROME	606170	ClinVar, OMIM
CAV3	LONG QT SYNDROME	PS192500	ClinVar, OMIM, HUMSAVAR
IHH	BRACHYDACTYLY, TYPE A1	112500	ClinVar, OMIM, HUMSAVAR
ABCC8	HYPOGLYCEMIA, LEUCINE-INDUCED	240800	ClinVar, OMIM, HUMSAVAR
MRE11A	ATAXIA-TELANGIECTASIA-LIKE DISORDER	PS604391	ClinVar, OMIM, HUMSAVAR
GLUD2	PARKINSON DISEASE	PS168600	ClinVar
SYNE1	EMERY-DREIFUSS MUSCULAR DYSTROPHY	PS310300	ClinVar, OMIM, HUMSAVAR
LTA	LEPROSY, SUSCEPTIBILITY TO, 4	610988	OMIM
SCN9A	INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE	243000	ClinVar, OMIM, HUMSAVAR
LAMA4	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	PS604772	ClinVar
COL6A3	BETHLEM MYOPATHY	PS158810	ClinVar, OMIM, HUMSAVAR
DPYD	DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY	274270	ClinVar, OMIM, HUMSAVAR
ATN1	DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY	125370	ClinVar, OMIM
TPI1	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	615512	ClinVar, OMIM, HUMSAVAR
PRF1	APLASTIC ANEMIA	609135	OMIM
HLA-B	SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO	PS106300	ClinVar, OMIM
PRSS12	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	OMIM
ZNF469	BRITTLE CORNEA SYNDROME	PS229200	ClinVar, OMIM
SLC9A9	AUTISM, SUSCEPTIBLITY TO	PS209850	ClinVar, OMIM
SECISBP2	THYROID HORMONE METABOLISM, ABNORMAL	609698	OMIM, HUMSAVAR
PLOD2	BRUCK SYNDROME 2	609220	ClinVar, OMIM, HUMSAVAR
VCL	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
LRIG2	UROFACIAL SYNDROME	PS236730	ClinVar, OMIM
FUT6	FUCOSYLTRANSFERASE 6 DEFICIENCY	613852	OMIM
FOXP3	DIABETES MELLITUS, INSULIN-DEPENDENT	222100	OMIM
PXDN	CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES	269400	ClinVar, OMIM, HUMSAVAR
FLNA	INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED	300048	OMIM
GNAO1	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
CDT1	MEIER-GORLIN SYNDROME	PS224690	ClinVar, OMIM, HUMSAVAR
FAM175A	BREAST CANCER	114480	HUMSAVAR
BMP1	OSTEOGENESIS IMPERFECTA	PS166200	ClinVar, OMIM, HUMSAVAR
PTEN	VACTERL ASSOCIATION WITH HYDROCEPHALUS	276950	OMIM
NHEJ1	SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION	611291	ClinVar, OMIM, HUMSAVAR
BBS12	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM, HUMSAVAR
FGFR1	JACKSON-WEISS SYNDROME	123150	ClinVar, OMIM
KRT5	RETICULATE PIGMENT DISORDERS	PS179850	ClinVar, OMIM
ATP1A2	ALTERNATING HEMIPLEGIA OF CHILDHOOD	PS104290	ClinVar, OMIM, HUMSAVAR
ZFAT	AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3	608175	ClinVar, OMIM
SLC3A1	CYSTINURIA	220100	ClinVar, OMIM, HUMSAVAR
ASXL1	BOHRING-OPITZ SYNDROME	605039	ClinVar, OMIM
CRX	RETINITIS PIGMENTOSA	PS268000	ClinVar, HUMSAVAR
TRAPPC2	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED	313400	ClinVar, OMIM, HUMSAVAR
TMEM67	COACH SYNDROME	216360	ClinVar, OMIM, HUMSAVAR
CYP17A1	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY	202110	ClinVar, OMIM, HUMSAVAR
CDON	HOLOPROSENCEPHALY	PS236100	ClinVar, OMIM, HUMSAVAR
MED13L	TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED	PS608808	ClinVar, OMIM, HUMSAVAR
NT5E	CALCIFICATION OF JOINTS AND ARTERIES	211800	ClinVar, OMIM, HUMSAVAR
QDPR	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C	261630	ClinVar, OMIM, HUMSAVAR
CCL2	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	607948	OMIM
SLC9A3	DIARRHEA, CONGENITAL	PS214700	ClinVar, OMIM
NAT8L	N-ACETYLASPARTATE DEFICIENCY	614063	OMIM
DIAPH2	PREMATURE OVARIAN FAILURE 2A	300511	ClinVar, OMIM
ERCC4	XFE PROGEROID SYNDROME	610965	ClinVar, OMIM, HUMSAVAR
PTEN	GLIOMA	PS137800	ClinVar, OMIM, HUMSAVAR
FOXL2	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS	110100	ClinVar, OMIM, HUMSAVAR
ZP1	OOCYTE MATURATION DEFECT	PS615774	OMIM
WNT10A	ODONTOONYCHODERMAL DYSPLASIA	257980	ClinVar, OMIM, HUMSAVAR
ETV6	THROMBOCYTOPENIA 5	616216	ClinVar, OMIM, HUMSAVAR
SDHAF2	PARAGANGLIOMAS	PS168000	ClinVar, OMIM, HUMSAVAR
HGF	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
SGCG	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
PIK3R1	IMMUNODEFICIENCY 36	616005	ClinVar, OMIM
PRNP	KURU, SUSCEPTIBILITY TO	245300	OMIM
GPSM2	CHUDLEY-MCCULLOUGH SYNDROME	604213	ClinVar, OMIM
SBDS	SHWACHMAN-DIAMOND SYNDROME	260400	ClinVar, OMIM, HUMSAVAR
NDUFS1	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM, HUMSAVAR
CCDC22	RITSCHER-SCHINZEL SYNDROME	PS220210	ClinVar, OMIM, HUMSAVAR
LTBP2	WEILL-MARCHESANI SYNDROME	PS277600	ClinVar, OMIM, HUMSAVAR
PTPN12	COLORECTAL CANCER	114500	OMIM
RAPSN	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
LIG4	LIG4 SYNDROME	606593	OMIM, HUMSAVAR
MT-CYB	LEBER OPTIC ATROPHY	535000	HUMSAVAR
COL6A1	ULLRICH CONGENITAL MUSCULAR DYSTROPHY	PS254090	ClinVar, OMIM, HUMSAVAR
EEF2	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
SLC16A1	MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY	616095	OMIM, HUMSAVAR
DLD	MAPLE SYRUP URINE DISEASE	PS248600	ClinVar, OMIM, HUMSAVAR
CITED2	VENTRICULAR SEPTAL DEFECT	PS614429	OMIM
SOD1	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
CRYAB	CATARACT	PS116200	ClinVar, OMIM
TBX5	HEART, MALFORMATION OF	234750	ClinVar
HPGD	DIGITAL CLUBBING, ISOLATED CONGENITAL	119900	ClinVar, OMIM, HUMSAVAR
ATXN10	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM
HLA-DQB1	CELIAC DISEASE	PS212750	OMIM
IKBKG	INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED	PS610799	ClinVar, OMIM, HUMSAVAR
CRYBB1	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
PEX5	PEROXISOME BIOGENESIS DISORDER	PS214100	ClinVar, OMIM, HUMSAVAR
PMP22	GUILLAIN-BARRE SYNDROME, FAMILIAL	139393	OMIM
ITM2B	CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2	117300	ClinVar, OMIM
RYR2	CARDIAC ARRHYTHMIA	115000	ClinVar
TP53	BREAST CANCER	114480	OMIM
AP4E1	SPASTIC PARAPLEGIA	PS303350	OMIM
OPA1	MITOCHONDRIAL DNA DEPLETION SYNDROME	PS603041	OMIM
SHOXY	SHORT STATURE, IDIOPATHIC, X-LINKED	300582	ClinVar, OMIM
APCDD1	HYPOTRICHOSIS	PS605389	ClinVar, OMIM, HUMSAVAR
PYGL	GLYCOGEN STORAGE DISEASE VI	232700	ClinVar, OMIM, HUMSAVAR
DSPP	DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1	605594	OMIM, HUMSAVAR
FGFR3	COLORECTAL CANCER	114500	OMIM
GDI1	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
TBX1	VELOCARDIOFACIAL SYNDROME	192430	ClinVar, OMIM, HUMSAVAR
PTH1R	CHONDRODYSPLASIA, BLOMSTRAND TYPE	215045	ClinVar, OMIM, HUMSAVAR
RNF125	TENORIO SYNDROME	616260	ClinVar, OMIM, HUMSAVAR
SLC6A19	IMINOGLYCINURIA	242600	OMIM
IL12RB1	IMMUNODEFICIENCY 30	614891	ClinVar, OMIM, HUMSAVAR
WDR35	SHORT-RIB THORACIC DYSPLASIA	PS208500	ClinVar, OMIM, HUMSAVAR
SOX17	VESICOURETERAL REFLUX	PS193000	ClinVar, OMIM, HUMSAVAR
DYRK1B	ABDOMINAL OBESITY-METABOLIC SYNDROME	PS605552	ClinVar, OMIM, HUMSAVAR
SNX14	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20	616354	ClinVar, OMIM
AIMP1	LEUKODYSTROPHY, HYPOMYELINATING	PS312080	ClinVar, OMIM
NALCN	CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY	616266	ClinVar, OMIM, HUMSAVAR
DMXL2	POLYENDOCRINE-POLYNEUROPATHY SYNDROME	616113	OMIM
PITX1	LIEBENBERG SYNDROME	186550	OMIM
FLT3	LEUKEMIA, ACUTE MYELOID	601626	ClinVar, OMIM
CYP27B1	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	264700	ClinVar, OMIM, HUMSAVAR
THBS4	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
D2HGDH	D-2-HYDROXYGLUTARIC ACIDURIA	PS600721	ClinVar, OMIM, HUMSAVAR
SDHD	PARAGANGLIOMAS	PS168000	ClinVar, OMIM, HUMSAVAR
KCNJ10	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
IVD	ISOVALERIC ACIDEMIA	243500	ClinVar, OMIM, HUMSAVAR
ADRB3	OBESITY	601665	OMIM
STIM1	STORMORKEN SYNDROME	185070	ClinVar, OMIM, HUMSAVAR
LIPC	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12	612797	ClinVar, OMIM
VPS33B	ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS	PS208085	ClinVar, OMIM, HUMSAVAR
MT-TQ	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	540000	OMIM
DYNC2H1	SHORT-RIB THORACIC DYSPLASIA	PS208500	ClinVar, OMIM, HUMSAVAR
POU3F4	DEAFNESS, X-LINKED	PS304500	ClinVar, OMIM, HUMSAVAR
SCN1B	EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS	PS604233	ClinVar, OMIM, HUMSAVAR
STK11	PEUTZ-JEGHERS SYNDROME	175200	ClinVar, OMIM, HUMSAVAR
OPTN	GLAUCOMA, PRIMARY OPEN ANGLE	137760	OMIM, HUMSAVAR
EDARADD	ECTODERMAL DYSPLASIA (SELECT EXAMPLES)	PS305100	ClinVar, OMIM, HUMSAVAR
TGFBR2	LOEYS-DIETZ SYNDROME	PS609192	ClinVar, OMIM, HUMSAVAR
TMEM216	MECKEL SYNDROME	PS249000	ClinVar, OMIM, HUMSAVAR
NOS3	PREECLAMPSIA/ECLAMPSIA	PS189800	OMIM
ELOVL4	STARGARDT DISEASE 3	600110	ClinVar, OMIM
SELP	IGE RESPONSIVENESS, ATOPIC	147050	OMIM
ST3GAL5	AMISH INFANTILE EPILEPSY SYNDROME	609056	ClinVar, OMIM
CAV1	LIPODYSTROPHY, CONGENITAL GENERALIZED	PS608594	ClinVar, OMIM
GATA2	IMMUNODEFICIENCY 21	614172	ClinVar, OMIM, HUMSAVAR
ZEB1	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL	PS136800	ClinVar, OMIM, HUMSAVAR
HDC	GILLES DE LA TOURETTE SYNDROME	137580	ClinVar, OMIM
VSX1	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS	PS122000	ClinVar, HUMSAVAR
TTN	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
TERT	DYSKERATOSIS CONGENITA	PS127550	ClinVar, OMIM, HUMSAVAR
GP1BB	BLEEDING DISORDER, PLATELET-TYPE	PS231200	OMIM, HUMSAVAR
AR	ANDROGEN INSENSITIVITY, PARTIAL	312300	ClinVar, OMIM, HUMSAVAR
TMPO	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
REEP2	SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE	615625	ClinVar, OMIM, HUMSAVAR
KRT81	MONILETHRIX	158000	ClinVar, OMIM, HUMSAVAR
ALG8	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
PDE4D	STROKE, SUSCEPTIBILITY TO, 1	606799	OMIM
HMCN1	MACULAR DEGENERATION, AGE-RELATED	PS603075	OMIM, HUMSAVAR
GNB4	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F	615185	ClinVar, OMIM, HUMSAVAR
CEP164	NEPHRONOPHTHISIS	PS256100	ClinVar, OMIM, HUMSAVAR
KCNQ1	ATRIAL FIBRILLATION, FAMILIAL	PS608583	ClinVar, OMIM, HUMSAVAR
RPS26	DIAMOND-BLACKFAN ANEMIA	PS105650	ClinVar, OMIM, HUMSAVAR
RNASEH2B	AICARDI-GOUTIERES SYNDROME	PS225750	ClinVar, OMIM, HUMSAVAR
GDF5	BRACHYDACTYLY, TYPE C	113100	ClinVar, OMIM, HUMSAVAR
TGFBI	CORNEAL DYSTROPHY, GROENOUW TYPE I	121900	ClinVar, OMIM, HUMSAVAR
VPS35	PARKINSON DISEASE	PS168600	ClinVar, OMIM, HUMSAVAR
TMIE	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
NEXN	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
GIPC3	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
FHL1	REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET	300718	ClinVar, OMIM, HUMSAVAR
LSS	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
COX10	MITOCHONDRIAL COMPLEX IV DEFICIENCY	220110	OMIM, HUMSAVAR
KCNA5	PULMONARY HYPERTENSION, PRIMARY	PS178600	ClinVar
MYH6	ATRIAL SEPTAL DEFECT	PS108800	ClinVar, OMIM, HUMSAVAR
ASIP	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN	PS227220	ClinVar, OMIM
NEK8	NEPHRONOPHTHISIS	PS256100	ClinVar, OMIM, HUMSAVAR
FGFR3	LACRIMOAURICULODENTODIGITAL SYNDROME	149730	ClinVar, OMIM, HUMSAVAR
GLRB	HYPEREKPLEXIA 2	614619	ClinVar, OMIM, HUMSAVAR
C3	MACULAR DEGENERATION, AGE-RELATED	PS603075	OMIM, HUMSAVAR
HSD17B10	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM
RPS14	CHROMOSOME 5Q DELETION SYNDROME	153550	OMIM
CCDC50	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM
HSPB3	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC	613376	ClinVar, OMIM, HUMSAVAR
COL4A1	HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO	614519	ClinVar, OMIM, HUMSAVAR
ATP1A3	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
PDLIM4	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15	613418	ClinVar
PALLD	PANCREATIC CANCER, SUSCEPTIBILITY TO, 1	606856	ClinVar, OMIM
HR	ATRICHIA WITH PAPULAR LESIONS	209500	ClinVar, OMIM
HCFC1	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
ERCC6L2	BONE MARROW FAILURE SYNDROME 2	615715	ClinVar, OMIM
SCN9A	PAROXYSMAL EXTREME PAIN DISORDER	167400	ClinVar, HUMSAVAR
RNF168	RIDDLE SYNDROME	611943	ClinVar, OMIM
SOBP	MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS	613671	ClinVar, OMIM
AMELX	AMELOGENESIS IMPERFECTA	PS104500	ClinVar, OMIM, HUMSAVAR
NR0B2	OBESITY	601665	OMIM
NADK2	2,4-DIENOYL-COA REDUCTASE DEFICIENCY	616034	ClinVar, OMIM
LRP4	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
BRAF	NOONAN SYNDROME	PS163950	ClinVar, OMIM, HUMSAVAR
GRN	CEROID LIPOFUSCINOSES	PS256730	OMIM
DOCK7	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM
CYLD	BROOKE-SPIEGLER SYNDROME	605041	ClinVar, OMIM, HUMSAVAR
MCM9	OVARIAN DYSGENESIS	PS233300	ClinVar, OMIM
ITGA3	INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL	614748	ClinVar, OMIM, HUMSAVAR
STAT3	HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	147060	ClinVar, OMIM, HUMSAVAR
S1PR2	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
SNCA	DEMENTIA, LEWY BODY	127750	ClinVar, OMIM, HUMSAVAR
FN1	PLASMA FIBRONECTIN DEFICIENCY	614101	OMIM
LMAN1	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1	227300	ClinVar, OMIM, HUMSAVAR
MIR96	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM
POLG2	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MTDNA DELETIONS	PS157640	ClinVar, OMIM, HUMSAVAR
GATM	CEREBRAL CREATINE DEFICIENCY SYNDROME	PS300352	ClinVar, OMIM, HUMSAVAR
TSC1	TUBEROUS SCLEROSIS	PS191100	ClinVar, OMIM, HUMSAVAR
NAA10	OGDEN SYNDROME	300855	ClinVar, OMIM, HUMSAVAR
FGA	DYSFIBRINOGENEMIA, CONGENITAL	616004	OMIM, HUMSAVAR
ZNF513	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
PCCA	PROPIONIC ACIDEMIA	606054	OMIM, HUMSAVAR
TNFAIP3	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE	616744	ClinVar, OMIM
SCN8A	COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA	614306	OMIM
ZFP57	DIABETES MELLITUS, TRANSIENT NEONATAL, 1	601410	ClinVar, OMIM, HUMSAVAR
RAB39B	WAISMAN SYNDROME	311510	ClinVar, OMIM, HUMSAVAR
TUBB1	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED	613112	ClinVar, OMIM, HUMSAVAR
IL7R	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE	608971	ClinVar, OMIM
ZNF750	SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS	610227	OMIM
AFG3L2	SPASTIC ATAXIA	PS108600	ClinVar, OMIM, HUMSAVAR
ARX	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM
SLC25A13	CITRULLINEMIA, TYPE II, NEONATAL-ONSET	605814	ClinVar, OMIM, HUMSAVAR
IFNG	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	607948	OMIM
UGT1A1	BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1	601816	ClinVar, OMIM
MT-ND6	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	540000	OMIM, HUMSAVAR
KIT	PIEBALD TRAIT	172800	ClinVar, OMIM, HUMSAVAR
CA4	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
HDAC6	CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA	300863	OMIM
ESPN	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	OMIM, HUMSAVAR
NR4A2	PARKINSON DISEASE	PS168600	ClinVar
BCS1L	GRACILE SYNDROME	603358	ClinVar, OMIM, HUMSAVAR
FUCA1	FUCOSIDOSIS	230000	OMIM, HUMSAVAR
ANO6	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM
FERMT3	LEUKOCYTE ADHESION DEFICIENCY, TYPE III	612840	ClinVar, OMIM
GARS	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
NDUFAF2	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM
MT-ND2	ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL	502500	HUMSAVAR
BMPER	DIAPHANOSPONDYLODYSOSTOSIS	608022	ClinVar, OMIM, HUMSAVAR
JAK2	LEUKEMIA, ACUTE MYELOID	601626	ClinVar, OMIM, HUMSAVAR
INSL3	CRYPTORCHIDISM, UNILATERAL OR BILATERAL	219050	ClinVar, OMIM, HUMSAVAR
ABCA5	HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA	135400	ClinVar
KCNJ8	CARDIAC ARRHYTHMIA	115000	ClinVar
ATP8B1	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1	147480	ClinVar, OMIM, HUMSAVAR
PSAT1	NEU-LAXOVA SYNDROME	PS256520	ClinVar, OMIM, HUMSAVAR
CSRP3	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
AMPD1	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY	615511	ClinVar, OMIM, HUMSAVAR
LIG4	MYELOMA, MULTIPLE	254500	OMIM
DSP	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	PS107970	ClinVar, OMIM, HUMSAVAR
GAS8	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
GRHL2	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM
PTPN11	NOONAN SYNDROME	PS163950	ClinVar, OMIM, HUMSAVAR
PRPH2	MACULAR DYSTROPHY, PATTERNED	PS169150	ClinVar, OMIM, HUMSAVAR
TSG101	BREAST CANCER	114480	OMIM
NBN	APLASTIC ANEMIA	609135	OMIM
PGAP3	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME	PS239300	ClinVar, OMIM, HUMSAVAR
DPAGT1	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
FGFR2	GASTRIC CANCER	613659	OMIM
NDUFB3	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM
POU1F1	PITUITARY HORMONE DEFICIENCY, COMBINED	PS613038	ClinVar, OMIM, HUMSAVAR
RPS29	DIAMOND-BLACKFAN ANEMIA	PS105650	ClinVar, OMIM, HUMSAVAR
TTN	HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE	603689	ClinVar, OMIM, HUMSAVAR
CHRNA5	SMOKING AS A QUANTITATIVE TRAIT LOCUS 3	612052	ClinVar, OMIM
IDS	MUCOPOLYSACCHARIDOSES	PS607014	ClinVar, OMIM, HUMSAVAR
NDP	EXUDATIVE VITREORETINOPATHY	PS133780	ClinVar, OMIM, HUMSAVAR
PTGIS	HYPERTENSION, ESSENTIAL	145500	ClinVar, OMIM
KIT	GASTROINTESTINAL STROMAL TUMOR	606764	ClinVar, OMIM, HUMSAVAR
KCNB1	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
RBCK1	POLYGLUCOSAN BODY MYOPATHY	PS615895	ClinVar, OMIM, HUMSAVAR
C5	COMPLEMENT COMPONENT 5 DEFICIENCY	609536	ClinVar, OMIM
UBB	CLEFT PALATE, ISOLATED	119540	OMIM
TTN	TIBIAL MUSCULAR DYSTROPHY, TARDIVE	600334	ClinVar, OMIM, HUMSAVAR
ATG16L1	INFLAMMATORY BOWEL DISEASE	PS266600	OMIM
BSCL2	SPASTIC PARAPLEGIA	PS303350	OMIM, HUMSAVAR
RTN4IP1	OPTIC ATROPHY	PS165500	ClinVar, OMIM
CSNK1D	ADVANCED SLEEP PHASE SYNDROME	PS604348	ClinVar, OMIM, HUMSAVAR
NOS2	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
MIAT	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	608446	OMIM
DNMT1	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	PS162400	ClinVar, OMIM, HUMSAVAR
TECTA	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	OMIM
VARS2	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
WIPF1	WISKOTT-ALDRICH SYNDROME 2	614493	ClinVar, OMIM
COL2A1	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS	132450	ClinVar, OMIM, HUMSAVAR
KRT5	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED	131900	ClinVar, OMIM, HUMSAVAR
HAL	HISTIDINEMIA	235800	OMIM, HUMSAVAR
CRB1	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM, HUMSAVAR
MXRA5	LUNG CANCER	211980	HUMSAVAR
TERT	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED	PS614742	ClinVar, OMIM, HUMSAVAR
FREM1	TRIGONOCEPHALY, ISOLATED	PS190440	ClinVar, OMIM, HUMSAVAR
MYH6	HEART, MALFORMATION OF	234750	ClinVar
PLAU	ALZHEIMER DISEASE	104300	OMIM
DNM1L	ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION	614388	ClinVar, OMIM, HUMSAVAR
IGF2	GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES	616489	ClinVar, OMIM
TNNT1	NEMALINE MYOPATHY	PS161800	ClinVar, OMIM
AP5Z1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
MT-ND1	LEBER OPTIC ATROPHY AND DYSTONIA	500001	OMIM
NKX2-5	ATRIAL SEPTAL DEFECT	PS108800	ClinVar, OMIM, HUMSAVAR
PSMB8	AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME	256040	ClinVar, OMIM, HUMSAVAR
PHOX2B	NEUROBLASTOMA, SUSCEPTIBILITY TO, 2	613013	ClinVar, OMIM
EDAR	HAIR MORPHOLOGY 1	612630	OMIM
RPS6KA3	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
TAL2	LEUKEMIA, ACUTE LYMPHOBLASTIC	613065	OMIM
BRAF	CARDIOFACIOCUTANEOUS SYNDROME	PS115150	ClinVar, OMIM, HUMSAVAR
TMEM5	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	PS236670	ClinVar, OMIM, HUMSAVAR
ABCA12	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE	PS242300	ClinVar, OMIM, HUMSAVAR
PTEN	MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO	607174	OMIM
SNCB	DEMENTIA, LEWY BODY	127750	ClinVar, OMIM
SCYL1	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar
WNT10B	SPLIT-HAND/FOOT MALFORMATION	PS183600	ClinVar, OMIM, HUMSAVAR
GJB3	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	133200	ClinVar, OMIM, HUMSAVAR
COL4A1	BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES	607595	ClinVar, OMIM, HUMSAVAR
ADAMTS18	MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS	615458	ClinVar, OMIM, HUMSAVAR
ADCK3	COENZYME Q10 DEFICIENCY, PRIMARY	PS607426	ClinVar, OMIM, HUMSAVAR
IDH3B	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
XPNPEP3	NEPHRONOPHTHISIS	PS256100	ClinVar, OMIM, HUMSAVAR
TMEM237	JOUBERT SYNDROME	PS213300	ClinVar, OMIM
GP1BA	NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO	258660	ClinVar, OMIM
TBXAS1	GHOSAL HEMATODIAPHYSEAL DYSPLASIA	231095	OMIM, HUMSAVAR
MMP20	AMELOGENESIS IMPERFECTA	PS104500	ClinVar, OMIM
NUDT15	THIOPURINES, POOR METABOLISM OF	PS610460	ClinVar, OMIM
IFNGR1	IMMUNODEFICIENCY 27A	209950	ClinVar, OMIM, HUMSAVAR
PTH1R	METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE	156400	OMIM, HUMSAVAR
SNAI2	WAARDENBURG SYNDROME	PS193500	OMIM
GBA	GAUCHER DISEASE, TYPE II	230900	ClinVar, OMIM, HUMSAVAR
TREM2	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	221770	ClinVar, OMIM, HUMSAVAR
MSH6	MISMATCH REPAIR CANCER SYNDROME	276300	ClinVar, OMIM
MTAP	DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA	112250	ClinVar, OMIM
F9	COUMARIN RESISTANCE	122700	OMIM
GMPPB	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
PLAG1	SALIVARY GLAND ADENOMA, PLEOMORPHIC	181030	OMIM
GCK	HYPERINSULINEMIA HYPOGLYCEMIA	PS256450	ClinVar, OMIM, HUMSAVAR
NOG	PROXIMAL SYMPHALANGISM	PS185800	ClinVar, OMIM, HUMSAVAR
DARS2	LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	611105	ClinVar, OMIM, HUMSAVAR
ATP6V0A4	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	602722	ClinVar, OMIM, HUMSAVAR
VCAN	WAGNER VITREORETINOPATHY	143200	ClinVar, OMIM
SEMA3E	CHARGE SYNDROME	214800	ClinVar, OMIM
DUSP6	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
AVPR2	NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS	300539	ClinVar, OMIM, HUMSAVAR
NKX2-5	CONOTRUNCAL HEART MALFORMATIONS	217095	OMIM
OBSL1	THREE M SYNDROME	PS273750	ClinVar, OMIM
BMP4	MICROPHTHALMIA, SYNDROMIC	PS309800	ClinVar, OMIM, HUMSAVAR
NOTCH3	LATERAL MENINGOCELE SYNDROME	130720	ClinVar, OMIM
PRNP	FATAL FAMILIAL INSOMNIA	600072	ClinVar, OMIM, HUMSAVAR
YAP1	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT	120200	ClinVar
MT-ND6	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	HUMSAVAR
RASA1	BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1	605462	OMIM
MT-TH	DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL	500008	OMIM
ADGRV1	USHER SYNDROME	PS276900	ClinVar, OMIM, HUMSAVAR
RUNX1	LEUKEMIA, ACUTE MYELOID	601626	OMIM
MAOA	BRUNNER SYNDROME	300615	ClinVar, OMIM
SH3TC2	MONONEUROPATHY OF THE MEDIAN NERVE, MILD	613353	ClinVar, OMIM, HUMSAVAR
C1QC	C1Q DEFICIENCY	613652	ClinVar, OMIM, HUMSAVAR
DCC	ESOPHAGEAL CANCER	133239	OMIM
PODXL	PARKINSON DISEASE	PS168600	ClinVar
OFD1	OROFACIODIGITAL SYNDROME I	311200	ClinVar, OMIM, HUMSAVAR
CHRNG	MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT	265000	ClinVar, OMIM, HUMSAVAR
ELN	SUPRAVALVULAR AORTIC STENOSIS	185500	ClinVar, OMIM
GLI3	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME	175700	ClinVar, OMIM, HUMSAVAR
CHRNB1	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
VPS53	PONTOCEREBELLAR HYPOPLASIA	PS607596	ClinVar, OMIM, HUMSAVAR
MT-TH	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	540000	OMIM
CCDC151	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
CTCF	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
POLR3A	LEUKODYSTROPHY, HYPOMYELINATING	PS312080	ClinVar, OMIM, HUMSAVAR
TREX1	CHILBLAIN LUPUS	PS610448	ClinVar, OMIM, HUMSAVAR
DPAGT1	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
BCL10	LYMPHOMA, NON-HODGKIN, FAMILIAL	605027	OMIM
COLEC11	3MC SYNDROME	PS257920	ClinVar, OMIM, HUMSAVAR
TRPV4	BRACHYOLMIA TYPE 3	113500	ClinVar, OMIM, HUMSAVAR
RPE65	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
RTTN	MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	614833	ClinVar, OMIM, HUMSAVAR
RPGRIP1L	COACH SYNDROME	216360	ClinVar, OMIM, HUMSAVAR
PRPF8	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
EZH2	WEAVER SYNDROME	277590	ClinVar, OMIM, HUMSAVAR
POU4F3	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
CCDC8	THREE M SYNDROME	PS273750	ClinVar, OMIM
ARID1A	COFFIN-SIRIS SYNDROME	PS135900	ClinVar, OMIM
PTPN1	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	OMIM
RAB28	CONE-ROD DYSTROPHY 18	615374	ClinVar, OMIM
SUCLG1	MITOCHONDRIAL DNA DEPLETION SYNDROME	PS603041	ClinVar, OMIM, HUMSAVAR
REN	RENAL TUBULAR DYSGENESIS	267430	ClinVar, OMIM, HUMSAVAR
FASLG	LUNG CANCER	211980	OMIM
KRT2	ICHTHYOSIS BULLOSA OF SIEMENS	146800	ClinVar, OMIM, HUMSAVAR
LRP2	DONNAI-BARROW SYNDROME	222448	OMIM, HUMSAVAR
TMEM216	JOUBERT SYNDROME	PS213300	ClinVar, OMIM, HUMSAVAR
OTOGL	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
TPM3	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	255310	ClinVar, OMIM, HUMSAVAR
RAB39B	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM
LHCGR	LEYDIG CELL HYPOPLASIA, TYPE I	238320	ClinVar, OMIM, HUMSAVAR
RPS7	DIAMOND-BLACKFAN ANEMIA	PS105650	ClinVar, OMIM
IFNL3	HEPATITIS C VIRUS, SUSCEPTIBILITY TO	609532	OMIM
ALB	HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC	615999	ClinVar, OMIM, HUMSAVAR
NTRK1	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	PS162400	ClinVar, OMIM, HUMSAVAR
SETD2	LUSCAN-LUMISH SYNDROME	616831	ClinVar, OMIM
C4orf26	AMELOGENESIS IMPERFECTA	PS104500	ClinVar, OMIM
THPO	THROMBOCYTHEMIA	PS187950	ClinVar, OMIM
EMC1	CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION	616875	ClinVar, OMIM
ORC4	MEIER-GORLIN SYNDROME	PS224690	ClinVar, OMIM, HUMSAVAR
ZFPM2	CONOTRUNCAL HEART MALFORMATIONS	217095	HUMSAVAR
ANK2	CARDIAC ARRHYTHMIA	115000	ClinVar
APC	MEDULLOBLASTOMA	155255	HUMSAVAR
SLC4A1	BLOOD GROUP--WALDNER TYPE	112010	OMIM
JUP	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	PS107970	ClinVar, OMIM, HUMSAVAR
IL6	INFLAMMATORY BOWEL DISEASE	PS266600	OMIM
BICC1	RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO	601331	ClinVar, OMIM, HUMSAVAR
SALL1	TOWNES-BROCKS SYNDROME	107480	ClinVar, OMIM
EBP	MEND SYNDROME	300960	ClinVar, OMIM, HUMSAVAR
SLC2A2	FANCONI-BICKEL SYNDROME	227810	ClinVar, OMIM, HUMSAVAR
KCTD1	SCALP-EAR-NIPPLE SYNDROME	181270	ClinVar, OMIM, HUMSAVAR
BUB1B	COLORECTAL CANCER	114500	OMIM
ATP2A2	DARIER-WHITE DISEASE	124200	ClinVar, OMIM, HUMSAVAR
B9D1	MECKEL SYNDROME	PS249000	ClinVar, OMIM
DHCR7	SMITH-LEMLI-OPITZ SYNDROME	270400	ClinVar, OMIM, HUMSAVAR
CCL11	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	ClinVar, OMIM
MMP21	HETEROTAXY, VISCERAL	PS306955	OMIM
CLCF1	COLD-INDUCED SWEATING SYNDROME	PS272430	ClinVar, OMIM, HUMSAVAR
AGTR1	HYPERTENSION, ESSENTIAL	145500	OMIM
KIAA0319	DYSLEXIA, SUSCEPTIBILITY TO, 2	600202	OMIM
SURF1	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar
GCH1	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
SAMHD1	AICARDI-GOUTIERES SYNDROME	PS225750	ClinVar, OMIM, HUMSAVAR
KCNJ11	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13	616329	ClinVar, OMIM, HUMSAVAR
SERPINA1	MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE	309548	ClinVar
GDNF	HIRSCHSPRUNG DISEASE	PS142623	ClinVar, OMIM, HUMSAVAR
MT-ND5	LEIGH SYNDROME	256000	HUMSAVAR
JAK3	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE	600802	ClinVar, OMIM
USH1C	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
CXCR1	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	OMIM
PDGFRA	CLEFT PALATE, ISOLATED	119540	ClinVar
RPE65	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM, HUMSAVAR
ACTA1	MYOPATHY, SCAPULOHUMEROPERONEAL	616852	ClinVar, OMIM
TCTN2	MECKEL SYNDROME	PS249000	ClinVar, OMIM
PGM1	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
HPS1	HERMANSKY-PUDLAK SYNDROME	PS203300	ClinVar, OMIM
B4GAT1	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	PS236670	ClinVar, OMIM, HUMSAVAR
MMP1	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE	226600	OMIM
KRT8	CIRRHOSIS, FAMILIAL	215600	OMIM, HUMSAVAR
EGF	HYPOMAGNESEMIA	PS602014	ClinVar, OMIM, HUMSAVAR
TPO	THYROID DYSHORMONOGENESIS 2A	274500	ClinVar, OMIM, HUMSAVAR
ATCAY	CEREBELLAR ATAXIA, CAYMAN TYPE	601238	OMIM, HUMSAVAR
DCTN1	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	OMIM, HUMSAVAR
NR5A1	46,XY SEX REVERSAL	PS400044	ClinVar, OMIM, HUMSAVAR
SLC35A1	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	OMIM
MYBPC3	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
FGF5	TRICHOMEGALY	190330	ClinVar, OMIM, HUMSAVAR
CFTR	CYSTIC FIBROSIS	219700	ClinVar, OMIM, HUMSAVAR
CR1	KNOPS BLOOD GROUP SYSTEM	607486	OMIM
TBX19	ACTH DEFICIENCY, ISOLATED	201400	ClinVar, OMIM, HUMSAVAR
FREM1	MANITOBA OCULOTRICHOANAL SYNDROME	248450	ClinVar, OMIM, HUMSAVAR
C4A	BLOOD GROUP, CHIDO/RODGERS SYSTEM	614374	OMIM
COL6A2	BETHLEM MYOPATHY	PS158810	ClinVar, OMIM, HUMSAVAR
LPL	HYPERLIPIDEMIA, FAMILIAL COMBINED	144250	ClinVar, OMIM
NKX2-1	CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION	610978	ClinVar, OMIM, HUMSAVAR
STRC	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
TUBGCP6	MICROCEPHALY AND CHORIORETINOPATHY	PS251270	ClinVar, OMIM
HBA2	HEINZ BODY ANEMIAS	140700	OMIM
DYNC1H1	SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT	PS158600	ClinVar, OMIM, HUMSAVAR
TREX1	AICARDI-GOUTIERES SYNDROME	PS225750	ClinVar, OMIM, HUMSAVAR
RECQL4	RAPADILINO SYNDROME	266280	OMIM
ABCA4	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM
VSX2	MICROPHTHALMIA, ISOLATED	PS251600	ClinVar, OMIM, HUMSAVAR
NME1	NEUROBLASTOMA, SUSCEPTIBILITY TO	256700	OMIM
COL12A1	BETHLEM MYOPATHY	PS158810	ClinVar, OMIM, HUMSAVAR
OPA1	OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY	125250	ClinVar, OMIM, HUMSAVAR
FGF23	HYPOPHOSPHATEMIC RICKETS	PS193100	ClinVar, OMIM, HUMSAVAR
SEC63	POLYCYSTIC LIVER DISEASE	PS174050	ClinVar, OMIM
GAD1	SPASTIC QUADRIPLEGIC CEREBRAL PALSY	PS603513	ClinVar, OMIM, HUMSAVAR
SLC6A1	MYOCLONIC-ATONIC EPILEPSY	616421	ClinVar, OMIM, HUMSAVAR
HTT	HUNTINGTON DISEASE	143100	ClinVar, OMIM
CREB1	HISTIOCYTOMA, ANGIOMATOID FIBROUS	612160	OMIM
GHRHR	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB	612781	ClinVar, OMIM, HUMSAVAR
HDAC8	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM
WFS1	WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT	614296	ClinVar, OMIM, HUMSAVAR
RBP4	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA	PS300345	ClinVar, OMIM, HUMSAVAR
ASL	ARGININOSUCCINIC ACIDURIA	207900	OMIM, HUMSAVAR
PHB	BREAST CANCER	114480	OMIM
DMPK	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	PS604772	ClinVar
COL1A2	EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT	130060	OMIM
MYO5A	GRISCELLI SYNDROME	PS214450	ClinVar, OMIM
LIPT1	LIPOYLTRANSFERASE 1 DEFICIENCY	616299	ClinVar, OMIM, HUMSAVAR
BHLHA9	SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION	609432	ClinVar, OMIM, HUMSAVAR
ACKR1	WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1	611862	ClinVar, OMIM
KCNJ2	CARDIAC ARRHYTHMIA	115000	ClinVar
MTR	GASTROINTESTINAL STROMAL TUMOR	606764	ClinVar
PRLR	MULTIPLE FIBROADENOMAS OF THE BREAST	615554	ClinVar, OMIM, HUMSAVAR
PRRT2	SEIZURES, BENIGN FAMILIAL INFANTILE	PS601764	ClinVar, OMIM, HUMSAVAR
DSC2	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	PS107970	ClinVar, OMIM, HUMSAVAR
RYR1	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	255310	ClinVar, HUMSAVAR
VPS45	NEUTROPENIA, SEVERE CONGENITAL	PS202700	ClinVar, OMIM, HUMSAVAR
SLC26A8	SPERMATOGENIC FAILURE	PS258150	ClinVar, OMIM, HUMSAVAR
RP1	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
FGF10	LACRIMOAURICULODENTODIGITAL SYNDROME	149730	ClinVar, OMIM, HUMSAVAR
PIEZO2	MARDEN-WALKER SYNDROME	248700	ClinVar, OMIM, HUMSAVAR
TCF12	CRANIOSYNOSTOSIS 3	615314	ClinVar, OMIM, HUMSAVAR
SIX1	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM
PTHLH	BRACHYDACTYLY, TYPE E2	613382	ClinVar, OMIM, HUMSAVAR
RGS5	HYPERTENSION, ESSENTIAL	145500	OMIM
ERCC2	TRICHOTHIODYSTROPHY	PS601675	ClinVar, OMIM, HUMSAVAR
CAV1	PULMONARY HYPERTENSION, PRIMARY	PS178600	OMIM
ADAT3	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM, HUMSAVAR
MTR	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE	601634	OMIM
TAL1	LEUKEMIA, ACUTE LYMPHOBLASTIC	613065	OMIM
KCNJ2	SHORT QT SYNDROME	PS609620	ClinVar, OMIM, HUMSAVAR
PHGDH	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	601815	ClinVar, OMIM, HUMSAVAR
ARL13B	JOUBERT SYNDROME	PS213300	ClinVar, OMIM, HUMSAVAR
CDC73	PARATHYROID CARCINOMA	608266	ClinVar, OMIM
CNBP	MYOTONIC DYSTROPHY	PS160900	ClinVar, OMIM
HOGA1	HYPEROXALURIA, PRIMARY	PS259900	ClinVar, OMIM, HUMSAVAR
KLHL7	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
PSEN2	ALZHEIMER DISEASE	104300	ClinVar
TMEM67	BARDET-BIEDL SYNDROME	PS209900	OMIM
CSF1R	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS	221820	ClinVar, OMIM, HUMSAVAR
RFXAP	BARE LYMPHOCYTE SYNDROME, TYPE II	209920	ClinVar, OMIM
RPS6KA3	COFFIN-LOWRY SYNDROME	303600	ClinVar, OMIM, HUMSAVAR
SMAD7	COLORECTAL CANCER, SUSCEPTIBILITY TO, 3	612229	ClinVar, OMIM
ADRB2	ASTHMA, SUSCEPTIBILITY TO	600807	OMIM
NFKBIA	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	612132	OMIM, HUMSAVAR
COL2A1	ACHONDROGENESIS	PS200600	ClinVar, OMIM, HUMSAVAR
NPHS1	NEPHROTIC SYNDROME	PS256300	ClinVar, OMIM, HUMSAVAR
ATXN2	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM
RP1L1	OCCULT MACULAR DYSTROPHY	613587	ClinVar, OMIM, HUMSAVAR
TNXB	EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY	606408	OMIM, HUMSAVAR
APOA5	HYPERTRIGLYCERIDEMIA, FAMILIAL	145750	OMIM
GOT1	ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1	614419	OMIM
TMEM67	MECKEL SYNDROME	PS249000	ClinVar, OMIM, HUMSAVAR
PCBD1	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D	264070	ClinVar, OMIM, HUMSAVAR
GBA	GAUCHER DISEASE, PERINATAL LETHAL	608013	OMIM
ALB	EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT	130060	ClinVar
WDR35	CRANIOECTODERMAL DYSPLASIA	PS218330	ClinVar, OMIM, HUMSAVAR
LAMA3	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	226650	ClinVar, OMIM
FDPS	POROKERATOSIS	PS175800	ClinVar, OMIM, HUMSAVAR
MT-CO1	COLORECTAL CANCER	114500	HUMSAVAR
CTSA	GALACTOSIALIDOSIS	256540	ClinVar, OMIM, HUMSAVAR
STK11	TESTICULAR GERM CELL TUMOR	273300	ClinVar, OMIM, HUMSAVAR
LAMB3	AMELOGENESIS IMPERFECTA	PS104500	ClinVar, OMIM
G6PC3	NEUTROPENIA, SEVERE CONGENITAL	PS202700	ClinVar, OMIM, HUMSAVAR
T	NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO	182940	OMIM
ZAP70	IMMUNODEFICIENCY 48	269840	ClinVar, OMIM, HUMSAVAR
ERCC8	COCKAYNE SYNDROME A	216400	ClinVar, OMIM, HUMSAVAR
XYLT1	DESBUQUOIS DYSPLASIA	PS251450	ClinVar, OMIM, HUMSAVAR
SCN4B	CARDIAC ARRHYTHMIA	115000	ClinVar
SLITRK1	GILLES DE LA TOURETTE SYNDROME	137580	ClinVar, OMIM
DLEC1	ESOPHAGEAL CANCER	133239	OMIM
MT-ND1	ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL	502500	HUMSAVAR
MT-TL1	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	540000	OMIM
HRG	THROMBOPHILIA	PS188050	ClinVar, OMIM, HUMSAVAR
EIF2B2	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	603896	ClinVar, OMIM, HUMSAVAR
MT-TS2	MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS	545000	OMIM
FCGR2A	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
GM2A	GM2-GANGLIOSIDOSIS, AB VARIANT	272750	OMIM, HUMSAVAR
CHCHD10	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
LBR	REYNOLDS SYNDROME	613471	ClinVar, OMIM, HUMSAVAR
CRX	MACULAR DYSTROPHY, CONCENTRIC ANNULAR	153870	ClinVar
NHS	CATARACT	PS116200	ClinVar, OMIM
PAX3	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	122880	ClinVar, OMIM, HUMSAVAR
TGIF1	HOLOPROSENCEPHALY	PS236100	ClinVar, OMIM, HUMSAVAR
NF1	NEUROFIBROMATOSIS-NOONAN SYNDROME	601321	ClinVar, OMIM, HUMSAVAR
TSEN2	PONTOCEREBELLAR HYPOPLASIA	PS607596	ClinVar, OMIM, HUMSAVAR
POLR2F	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
TSHR	HYPERTHYROIDISM, NONAUTOIMMUNE	609152	ClinVar, OMIM, HUMSAVAR
PTEN	PROSTATE CANCER	176807	OMIM, HUMSAVAR
CYP11B1	HYPERALDOSTERONISM, FAMILIAL, TYPE I	103900	ClinVar, OMIM
HSD11B2	APPARENT MINERALOCORTICOID EXCESS	218030	ClinVar, OMIM, HUMSAVAR
NLRC4	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME	PS120100	ClinVar, OMIM, HUMSAVAR
SNTA1	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	603829	ClinVar
PTEN	MACROCEPHALY/AUTISM SYNDROME	605309	OMIM, HUMSAVAR
STS	ICHTHYOSIS, X-LINKED	308100	ClinVar, OMIM, HUMSAVAR
CRYM	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
KLHL3	PSEUDOHYPOALDOSTERONISM, TYPE II	PS145260	ClinVar, OMIM, HUMSAVAR
FLNB	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	272460	ClinVar, OMIM
TYK2	IMMUNODEFICIENCY 35	611521	ClinVar, OMIM
NDE1	LISSENCEPHALY 4	614019	ClinVar, OMIM
MED13L	MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS	616789	ClinVar, OMIM
PCSK1	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	600955	ClinVar, OMIM, HUMSAVAR
ZNF408	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
ZNF408	EXUDATIVE VITREORETINOPATHY	PS133780	ClinVar, OMIM, HUMSAVAR
PAX3	DIAPHRAGMATIC HERNIA, CONGENITAL	142340	ClinVar
GJB2	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
COL2A1	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	215150	ClinVar, OMIM
RYR1	CENTRAL CORE DISEASE OF MUSCLE	117000	ClinVar, OMIM, HUMSAVAR
TTN	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM
RBM20	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
DSP	KERATOSIS PALMOPLANTARIS STRIATA II	612908	ClinVar, OMIM
CLCN1	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	160800	ClinVar, OMIM, HUMSAVAR
CHRND	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	253290	ClinVar, OMIM, HUMSAVAR
RNU4ATAC	ROIFMAN SYNDROME	616651	OMIM
SLC22A12	HYPOURICEMIA, RENAL, 1	220150	ClinVar, OMIM, HUMSAVAR
PIK3CA	OVARIAN CANCER	167000	OMIM, HUMSAVAR
LAMB2	PIERSON SYNDROME	609049	ClinVar, OMIM, HUMSAVAR
TSHR	HYPERTHYROIDISM, FAMILIAL GESTATIONAL	603373	OMIM, HUMSAVAR
PITX2	AXENFELD-RIEGER SYNDROME, TYPE 1	180500	ClinVar, OMIM, HUMSAVAR
ALOXE3	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE	PS242300	ClinVar, OMIM, HUMSAVAR
ALG13	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
AP4B1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
VAX1	MICROPHTHALMIA, SYNDROMIC	PS309800	ClinVar, OMIM, HUMSAVAR
POR	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	613571	ClinVar, OMIM, HUMSAVAR
TIA1	WELANDER DISTAL MYOPATHY	604454	OMIM, HUMSAVAR
SLC11A1	BURULI ULCER, SUSCEPTIBILITY TO	610446	ClinVar, OMIM
POLR1D	TREACHER COLLINS SYNDROME	PS154500	ClinVar, OMIM, HUMSAVAR
COL4A6	DEAFNESS, X-LINKED	PS304500	ClinVar, OMIM, HUMSAVAR
CCR5	HEPATITIS C VIRUS, SUSCEPTIBILITY TO	609532	OMIM
TBXA2R	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM, HUMSAVAR
FBLN5	MACULAR DEGENERATION, AGE-RELATED	PS603075	ClinVar, OMIM, HUMSAVAR
RAB3GAP2	MARTSOLF SYNDROME	212720	OMIM, HUMSAVAR
IMPG1	MACULAR DYSTROPHY, VITELLIFORM	PS153840	ClinVar, OMIM, HUMSAVAR
SYNJ1	PARKINSON DISEASE	PS168600	ClinVar, OMIM, HUMSAVAR
SLC17A3	URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4	612671	ClinVar, OMIM
MT-ND1	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	540000	OMIM, HUMSAVAR
SMPX	DEAFNESS, X-LINKED	PS304500	ClinVar, OMIM
ACADSB	2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY	610006	ClinVar, OMIM, HUMSAVAR
HLA-DQB1	MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO	PS126200	OMIM
CDH1	GASTRIC CANCER, HEREDITARY DIFFUSE	137215	ClinVar, OMIM, HUMSAVAR
AKT2	HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY	240900	OMIM, HUMSAVAR
PSAP	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY	611722	OMIM
DBH	DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL	223360	OMIM, HUMSAVAR
HLA-G	ASTHMA, SUSCEPTIBILITY TO	600807	OMIM
ADH1C	PARKINSON DISEASE	PS168600	OMIM
GDF3	MICROPHTHALMIA, ISOLATED	PS251600	ClinVar, OMIM, HUMSAVAR
FUT2	BOMBAY PHENOTYPE	616754	OMIM
WNK1	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	PS162400	ClinVar, OMIM
FGFR3	SAETHRE-CHOTZEN SYNDROME	101400	ClinVar
HSD17B10	17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	300438	ClinVar, OMIM, HUMSAVAR
SFTPA2	PULMONARY FIBROSIS, IDIOPATHIC	178500	ClinVar, OMIM, HUMSAVAR
MFN2	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
MYBPC3	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
DAG1	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
CIB2	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
SSR4	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	OMIM
DMD	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
PEX3	PEROXISOME BIOGENESIS DISORDER	PS214100	ClinVar, OMIM, HUMSAVAR
SPECC1L	FACIAL CLEFTING, OBLIQUE, 1	600251	ClinVar, OMIM, HUMSAVAR
POLA1	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	301220	ClinVar
GPHN	HYPEREKPLEXIA, HEREDITARY 1	149400	ClinVar
KRT5	EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1	601001	ClinVar, OMIM
OCLN	BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA	251290	ClinVar, OMIM, HUMSAVAR
HLA-DRB1	MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO	PS126200	OMIM
KCNQ2	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
SBF1	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
MGAT2	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	ClinVar, OMIM, HUMSAVAR
UPK3A	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT	PS610805	ClinVar
PTPRQ	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
STAC3	NATIVE AMERICAN MYOPATHY	255995	ClinVar, OMIM, HUMSAVAR
MC1R	MELANOMA, CUTANEOUS MALIGNANT	PS155600	ClinVar, OMIM, HUMSAVAR
SPAG1	EPILEPSY, NOCTURNAL FRONTAL LOBE	PS600513	ClinVar
SHANK2	AUTISM, SUSCEPTIBLITY TO	PS209850	ClinVar, OMIM
SLC25A19	THIAMINE-RESPONSIVE DYSFUNCTION SYNDROME	PS249270	ClinVar, OMIM, HUMSAVAR
F8	HEMOPHILIA A	306700	ClinVar, OMIM, HUMSAVAR
HFE	MICROVASCULAR COMPLICATIONS OF DIABETES	PS603933	ClinVar, OMIM
ABCB6	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA	PS127500	ClinVar, OMIM, HUMSAVAR
CAV3	MYOPATHY, DISTAL, TATEYAMA TYPE	614321	ClinVar, OMIM, HUMSAVAR
SMAD4	JUVENILE POLYPOSIS SYNDROME	174900	ClinVar, OMIM, HUMSAVAR
ERCC6	UV-SENSITIVE SYNDROME	PS600630	ClinVar, OMIM
FLCN	BIRT-HOGG-DUBE SYNDROME	135150	ClinVar, OMIM, HUMSAVAR
TRIM32	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM, HUMSAVAR
ATP8A2	CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM	PS224050	ClinVar, OMIM, HUMSAVAR
SLC4A1	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT	179800	ClinVar, OMIM, HUMSAVAR
UPB1	BETA-UREIDOPROPIONASE DEFICIENCY	613161	OMIM, HUMSAVAR
HCCS	LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES	PS309801	ClinVar, OMIM, HUMSAVAR
KLC2	SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY	609541	OMIM
RAB7A	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
ITK	LYMPHOPROLIFERATIVE SYNDROME	PS308240	ClinVar, OMIM, HUMSAVAR
GATA6	ATRIOVENTRICULAR SEPTAL DEFECT	PS606215	ClinVar, OMIM, HUMSAVAR
MORC2	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM
CYP7B1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
BCKDHA	MAPLE SYRUP URINE DISEASE	PS248600	ClinVar, OMIM, HUMSAVAR
TPP1	CEROID LIPOFUSCINOSES	PS256730	ClinVar, OMIM, HUMSAVAR
PSEN1	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
NDE1	MICROHYDRANENCEPHALY	605013	OMIM
IKBKG	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA	300301	ClinVar, OMIM
RHO	FUNDUS ALBIPUNCTATUS	136880	OMIM
BUB1B	PREMATURE CHROMATID SEPARATION TRAIT	176430	ClinVar, OMIM, HUMSAVAR
KRAS	CARDIOFACIOCUTANEOUS SYNDROME	PS115150	ClinVar, OMIM, HUMSAVAR
DSPP	DENTINOGENESIS IMPERFECTA 1	125490	ClinVar, OMIM, HUMSAVAR
TMC1	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
APOC2	APOLIPOPROTEIN C-II DEFICIENCY	207750	ClinVar, OMIM, HUMSAVAR
MYH7	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
CHD2	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET	615369	ClinVar, OMIM, HUMSAVAR
HABP2	THROMBOPHILIA	PS188050	OMIM
CILP	INTERVERTEBRAL DISC DISEASE	603932	OMIM
KLF1	ANEMIA, CONGENITAL DYSERYTHROPOIETIC	PS224120	ClinVar, OMIM, HUMSAVAR
THRB	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	274300	ClinVar, OMIM
JAK2	THROMBOCYTHEMIA	PS187950	ClinVar, OMIM, HUMSAVAR
NDUFS4	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM
GIGYF2	PARKINSON DISEASE	PS168600	ClinVar, OMIM, HUMSAVAR
COL7A1	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT	131750	ClinVar, OMIM, HUMSAVAR
HOXB1	FACIAL PARESIS, HEREDITARY CONGENITAL	PS601471	ClinVar, OMIM, HUMSAVAR
LRP5	VAN BUCHEM DISEASE, TYPE 2	607636	ClinVar, OMIM, HUMSAVAR
LRP6	TOOTH AGENESIS, SELECTIVE	PS106600	ClinVar, OMIM
MIR2861	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15	613418	ClinVar, OMIM
LIG3	CARDIAC ARRHYTHMIA	115000	ClinVar
HOXA1	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME	601536	ClinVar, OMIM
RBPJ	ADAMS-OLIVER SYNDROME	PS100300	ClinVar, OMIM, HUMSAVAR
PTEN	BANNAYAN-RILEY-RUVALCABA SYNDROME	153480	ClinVar, OMIM, HUMSAVAR
ALOX12B	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE	PS242300	ClinVar, OMIM, HUMSAVAR
MPL	THROMBOCYTHEMIA	PS187950	ClinVar, OMIM, HUMSAVAR
STX1B	EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS	PS604233	ClinVar, OMIM, HUMSAVAR
ANOS1	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
CTLA4	DIABETES MELLITUS, INSULIN-DEPENDENT, 12	601388	OMIM
MT-ND5	LEBER OPTIC ATROPHY	535000	HUMSAVAR
TACO1	MITOCHONDRIAL COMPLEX IV DEFICIENCY	220110	OMIM
BCL10	IMMUNODEFICIENCY 37	616098	ClinVar, OMIM
HSPA9	EVEN-PLUS SYNDROME	616854	ClinVar, OMIM
RASSF1	LUNG CANCER	211980	OMIM
PRLR	HYPERPROLACTINEMIA	615555	ClinVar, OMIM, HUMSAVAR
PRPH2	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR	PS215500	ClinVar, OMIM, HUMSAVAR
GJB6	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
FGF3	DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA	610706	ClinVar, OMIM, HUMSAVAR
NFKBIL1	RHEUMATOID ARTHRITIS	180300	ClinVar, OMIM
TJP2	HYPERCHOLANEMIA, FAMILIAL	607748	ClinVar, OMIM, HUMSAVAR
DRD4	NOVELTY SEEKING PERSONALITY TRAIT	601696	OMIM
FREM1	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	608980	ClinVar, OMIM, HUMSAVAR
TRPV4	METATROPIC DYSPLASIA	156530	OMIM, HUMSAVAR
PDE6B	NIGHT BLINDNESS, CONGENITAL STATIONARY	PS310500	ClinVar, OMIM, HUMSAVAR
AQP1	BLOOD GROUP--COLTON	110450	OMIM
BMS1	APLASIA CUTIS CONGENITA, NONSYNDROMIC	107600	ClinVar, OMIM, HUMSAVAR
GYG1	POLYGLUCOSAN BODY MYOPATHY	PS615895	ClinVar, OMIM, HUMSAVAR
PDE8B	STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1	609161	OMIM
TTC7A	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME	243150	ClinVar, OMIM, HUMSAVAR
CREBBP	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
TMLHE	AUTISM, SUSCEPTIBLITY TO	PS209850	ClinVar, OMIM
KRT5	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE	131760	ClinVar, OMIM, HUMSAVAR
RAD54L	BREAST CANCER	114480	OMIM
AKT1	COLORECTAL CANCER	114500	OMIM
GJA1	HYPOPLASTIC LEFT HEART SYNDROME	PS241550	ClinVar, OMIM, HUMSAVAR
CC2D2A	COACH SYNDROME	216360	ClinVar, OMIM, HUMSAVAR
FGFR1	TRIGONOCEPHALY, ISOLATED	PS190440	ClinVar, OMIM, HUMSAVAR
VHL	PHEOCHROMOCYTOMA	171300	OMIM, HUMSAVAR
SLC6A3	TOBACCO ADDICTION, SUSCEPTIBILITY TO	188890	OMIM
BRIP1	FANCONI ANEMIA	PS227650	ClinVar, OMIM, HUMSAVAR
TGM1	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE	PS242300	ClinVar, OMIM, HUMSAVAR
DHTKD1	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM
SMCHD1	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2	158901	ClinVar, OMIM, HUMSAVAR
FGFR1	ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS	613001	ClinVar, OMIM
CYP1B1	PETERS ANOMALY	604229	OMIM
FBN1	MASS SYNDROME	604308	OMIM
ARX	CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA	300004	OMIM, HUMSAVAR
EGLN1	ERYTHROCYTOSIS, FAMILIAL	PS133100	ClinVar, OMIM, HUMSAVAR
SPAST	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
PLK4	MICROCEPHALY AND CHORIORETINOPATHY	PS251270	ClinVar, OMIM
NME8	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
OPN1LW	BLUE CONE MONOCHROMACY	303700	ClinVar, OMIM, HUMSAVAR
PANK2	RETINITIS PIGMENTOSA	PS268000	ClinVar
CD79B	AGAMMAGLOBULINEMIA	PS601495	ClinVar, OMIM, HUMSAVAR
ALDOB	FRUCTOSE INTOLERANCE, HEREDITARY	229600	ClinVar, OMIM, HUMSAVAR
VRK1	PONTOCEREBELLAR HYPOPLASIA	PS607596	ClinVar, OMIM
TRAC	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY	615387	ClinVar, OMIM
CHRM3	PRUNE BELLY SYNDROME	100100	OMIM
B3GALT6	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES	271640	ClinVar, OMIM, HUMSAVAR
PALB2	BREAST CANCER	114480	OMIM
PIK3R5	ATAXIA-OCULOMOTOR APRAXIA 3	615217	ClinVar, OMIM, HUMSAVAR
APTX	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	208920	ClinVar, OMIM, HUMSAVAR
COL4A4	HEMATURIA, BENIGN FAMILIAL	141200	ClinVar, HUMSAVAR
PEX10	PEROXISOME BIOGENESIS DISORDER	PS214100	ClinVar, OMIM, HUMSAVAR
ITGB4	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED	131800	OMIM
TRH	THYROTROPIN-RELEASING HORMONE DEFICIENCY	275120	OMIM
MYLK	AORTIC ANEURYSM, FAMILIAL ABDOMINAL	PS100070	ClinVar
COL25A1	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL	PS135700	ClinVar, OMIM, HUMSAVAR
GJA1	OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE	257850	ClinVar, OMIM
IBA57	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME	PS605711	ClinVar, OMIM, HUMSAVAR
HBA1	HEMOGLOBIN H DISEASE	613978	OMIM
FAM83H	AMELOGENESIS IMPERFECTA	PS104500	ClinVar, OMIM, HUMSAVAR
KIF7	PALLISTER-HALL SYNDROME	146510	HUMSAVAR
REEP1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
MSX2	PARIETAL FORAMINA 1	168500	OMIM, HUMSAVAR
STAT5B	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY	245590	OMIM, HUMSAVAR
GHR	GROWTH HORMONE INSENSITIVITY, PARTIAL	604271	ClinVar, OMIM, HUMSAVAR
POFUT1	RETICULATE PIGMENT DISORDERS	PS179850	ClinVar, OMIM
ITGB3	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM, HUMSAVAR
LFNG	SPONDYLOCOSTAL DYSOSTOSIS	PS277300	ClinVar, OMIM, HUMSAVAR
GRXCR1	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
HNF1A	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3	600496	ClinVar, OMIM, HUMSAVAR
SCN5A	PROGRESSIVE FAMILIAL HEART BLOCK	PS113900	ClinVar, OMIM, HUMSAVAR
KRT8	HEPATITIS C VIRUS, SUSCEPTIBILITY TO	609532	ClinVar
COL7A1	EPIDERMOLYSIS BULLOSA PRURIGINOSA	604129	OMIM, HUMSAVAR
HNMT	ASTHMA, SUSCEPTIBILITY TO	600807	ClinVar, OMIM
MKKS	MCKUSICK-KAUFMAN SYNDROME	236700	ClinVar, OMIM, HUMSAVAR
SHOX	LERI-WEILL DYSCHONDROSTEOSIS	127300	ClinVar, OMIM, HUMSAVAR
SSX2	SARCOMA, SYNOVIAL	300813	OMIM
XBP1	MAJOR AFFECTIVE DISORDER 7	612371	OMIM
SLC45A2	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN	PS227220	ClinVar, OMIM
PPP2R1B	LUNG CANCER	211980	OMIM
FGB	DYSFIBRINOGENEMIA, CONGENITAL	616004	OMIM, HUMSAVAR
KRT10	EPIDERMOLYTIC HYPERKERATOSIS	113800	ClinVar, OMIM, HUMSAVAR
KIF22	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2	603546	ClinVar, OMIM, HUMSAVAR
ROM1	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM
RPGRIP1	CONE-ROD DYSTROPHY 13	608194	ClinVar, OMIM, HUMSAVAR
MYOT	MYOFIBRILLAR MYOPATHY	PS601419	ClinVar, OMIM, HUMSAVAR
NPHP1	NEPHRONOPHTHISIS	PS256100	ClinVar, OMIM, HUMSAVAR
KCNQ1	LONG QT SYNDROME	PS192500	ClinVar, OMIM, HUMSAVAR
SIK1	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
HAMP	HEMOCHROMATOSIS	PS235200	ClinVar, OMIM, HUMSAVAR
SSX1	SARCOMA, SYNOVIAL	300813	OMIM
PRKRA	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
NPSR1	ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2	608584	ClinVar, OMIM
RTEL1	PULMONARY FIBROSIS, IDIOPATHIC	178500	ClinVar
AUTS2	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
OPHN1	MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE	300486	ClinVar, OMIM
GMPPA	ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME	615510	ClinVar, OMIM, HUMSAVAR
CCBE1	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1	235510	ClinVar, OMIM, HUMSAVAR
KCNE2	CARDIAC ARRHYTHMIA	115000	ClinVar
MYO18B	KLIPPEL-FEIL SYNDROME	PS118100	ClinVar, OMIM
EEF1A2	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
WNT10A	TOOTH AGENESIS, SELECTIVE	PS106600	ClinVar, OMIM, HUMSAVAR
TBC1D24	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
KRT6C	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE	615735	ClinVar, OMIM, HUMSAVAR
RHAG	RH-NULL, REGULATOR TYPE	268150	OMIM, HUMSAVAR
TTC8	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM
COL6A2	ULLRICH CONGENITAL MUSCULAR DYSTROPHY	PS254090	ClinVar, OMIM, HUMSAVAR
BBIP1	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM
SCN4A	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2	613345	ClinVar, OMIM, HUMSAVAR
CACNA1S	MALIGNANT HYPERTHERMIA	PS145600	ClinVar, OMIM, HUMSAVAR
SERPINC1	THROMBOPHILIA	PS188050	ClinVar, OMIM, HUMSAVAR
PDHB	PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY	PS312170	ClinVar, OMIM, HUMSAVAR
RAB27A	GRISCELLI SYNDROME	PS214450	ClinVar, OMIM, HUMSAVAR
NCF2	GRANULOMATOUS DISEASE, CHRONIC	PS306400	ClinVar, OMIM, HUMSAVAR
GUCA1B	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
HTRA1	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2	616779	ClinVar, OMIM
SFTPA1	PULMONARY FIBROSIS, IDIOPATHIC	178500	OMIM
FANCC	FANCONI ANEMIA	PS227650	ClinVar, OMIM, HUMSAVAR
STAT1	IMMUNODEFICIENCY 31A	614892	ClinVar, OMIM, HUMSAVAR
UQCRC2	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5	615160	ClinVar, OMIM, HUMSAVAR
GRHL3	VAN DER WOUDE SYNDROME 2	606713	ClinVar, OMIM, HUMSAVAR
FHL1	REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET	300717	ClinVar, OMIM, HUMSAVAR
PICALM	LEUKEMIA, ACUTE MYELOID	601626	OMIM
HFE	TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2	614193	ClinVar, OMIM
GGCX	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	610842	ClinVar, OMIM, HUMSAVAR
ANO3	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
APOL2	SCHIZOPHRENIA	181500	OMIM
RAG1	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS	233650	ClinVar, OMIM, HUMSAVAR
EXT2	SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME	616682	ClinVar, OMIM
AVPR2	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	304800	ClinVar, OMIM, HUMSAVAR
DNAAF3	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM, HUMSAVAR
ADCY5	DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA	606703	ClinVar, OMIM, HUMSAVAR
TFG	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
APC	COLORECTAL CANCER	114500	ClinVar, OMIM
GCK	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	OMIM
TNFSF11	OSTEOPETROSIS, AUTOSOMAL RECESSIVE	PS259700	ClinVar, OMIM, HUMSAVAR
MAD1L1	PROSTATE CANCER	176807	OMIM
TLR3	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	ClinVar, OMIM
SDHD	CARCINOID TUMORS, INTESTINAL	114900	OMIM
HMX1	OCULOAURICULAR SYNDROME	612109	OMIM
PSAP	COMBINED SAPOSIN DEFICIENCY	611721	ClinVar, OMIM
ALG14	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
SLC17A5	INFANTILE SIALIC ACID STORAGE DISEASE	269920	ClinVar, OMIM, HUMSAVAR
ASB10	GLAUCOMA 1, OPEN ANGLE, F	603383	ClinVar, OMIM
HMOX1	HEME OXYGENASE 1 DEFICIENCY	614034	OMIM
KRT71	HYPOTRICHOSIS	PS605389	ClinVar, OMIM, HUMSAVAR
MALT1	IMMUNODEFICIENCY 12	615468	ClinVar, OMIM, HUMSAVAR
SPEG	MYOPATHY, CENTRONUCLEAR, 5	615959	ClinVar, OMIM, HUMSAVAR
CTSK	PYCNODYSOSTOSIS	265800	ClinVar, OMIM, HUMSAVAR
SLC4A1	BLOOD GROUP--WRIGHT ANTIGEN	112050	OMIM
SETX	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
IGSF3	LACRIMAL DUCT DEFECT	149700	OMIM
SMARCB1	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
GATA4	TETRALOGY OF FALLOT	187500	ClinVar, OMIM, HUMSAVAR
MN1	MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO	607174	OMIM
RPS10	DIAMOND-BLACKFAN ANEMIA	PS105650	ClinVar, OMIM
EXOSC3	PONTOCEREBELLAR HYPOPLASIA	PS607596	ClinVar, OMIM, HUMSAVAR
GCLM	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	608446	OMIM
SMARCA4	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
MT-TK	DIABETES AND DEAFNESS, MATERNALLY INHERITED	520000	OMIM
UPK3A	RENAL HYPODYSPLASIA/APLASIA 1	191830	ClinVar
MKS1	BARDET-BIEDL SYNDROME	PS209900	OMIM, HUMSAVAR
KRAS	LEUKEMIA, ACUTE MYELOID	601626	ClinVar, OMIM
MAPT	FRONTOTEMPORAL DEMENTIA	600274	ClinVar, OMIM, HUMSAVAR
CXCR4	WHIM SYNDROME	193670	ClinVar, OMIM
SMAD6	AORTIC VALVE DISEASE	PS109730	ClinVar, OMIM, HUMSAVAR
SLC5A2	RENAL GLUCOSURIA	233100	ClinVar, OMIM, HUMSAVAR
PRKCSH	POLYCYSTIC LIVER DISEASE	PS174050	ClinVar, OMIM
PRODH	SCHIZOPHRENIA 4	600850	ClinVar, OMIM, HUMSAVAR
IGHM	AGAMMAGLOBULINEMIA	PS601495	ClinVar, OMIM
ACE	ALZHEIMER DISEASE	104300	OMIM
SARS2	HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME	613845	ClinVar, OMIM, HUMSAVAR
HPS4	HERMANSKY-PUDLAK SYNDROME	PS203300	ClinVar, OMIM
COL1A2	OSTEOPOROSIS	166710	ClinVar, OMIM
TNNI3K	CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY	616117	ClinVar, OMIM, HUMSAVAR
KRT10	ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR	609165	ClinVar, OMIM
USH1C	USHER SYNDROME	PS276900	ClinVar, OMIM
DSG2	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM
NEFL	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
NKX2-1	THYROID CANCER, NONMEDULLARY	PS188550	OMIM, HUMSAVAR
GPIHBP1	HYPERLIPOPROTEINEMIA, TYPE ID	615947	OMIM, HUMSAVAR
MID1	OPITZ GBBB SYNDROME	PS300000	ClinVar, OMIM, HUMSAVAR
TCIRG1	OSTEOPETROSIS, AUTOSOMAL RECESSIVE	PS259700	ClinVar, OMIM, HUMSAVAR
IRF1	LUNG CANCER	211980	OMIM
TCTN2	JOUBERT SYNDROME	PS213300	ClinVar, OMIM
GORAB	GERODERMA OSTEODYSPLASTICUM	231070	ClinVar, OMIM
STX16	PSEUDOHYPOPARATHYROIDISM, TYPE IB	603233	OMIM
NSUN2	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM, HUMSAVAR
ABCB6	PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK	609153	ClinVar, OMIM
TUBA4A	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
SDHB	PHEOCHROMOCYTOMA	171300	OMIM, HUMSAVAR
MECP2	ATTENTION DEFICIT-HYPERACTIVITY DISORDER	143465	ClinVar
DTNBP1	HERMANSKY-PUDLAK SYNDROME	PS203300	ClinVar, OMIM
VLDLR	CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM	PS224050	ClinVar, OMIM
LRIT3	NIGHT BLINDNESS, CONGENITAL STATIONARY	PS310500	ClinVar, OMIM, HUMSAVAR
HMGA2	LEIOMYOMA, UTERINE	150699	OMIM
FUZ	NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO	182940	OMIM
NTF4	GLAUCOMA 1, OPEN ANGLE, O	613100	ClinVar, OMIM
AMER1	OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS	300373	ClinVar, OMIM
MYH7	LEFT VENTRICULAR NONCOMPACTION	PS604169	ClinVar, OMIM, HUMSAVAR
RFXANK	BARE LYMPHOCYTE SYNDROME, TYPE II	209920	OMIM, HUMSAVAR
AXIN2	OLIGODONTIA-COLORECTAL CANCER SYNDROME	608615	ClinVar, OMIM
C1QA	C1Q DEFICIENCY	613652	ClinVar, OMIM
AFF2	MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE	309548	ClinVar, OMIM
PRDM12	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	PS162400	OMIM, HUMSAVAR
LPAR6	HYPOTRICHOSIS	PS605389	ClinVar, OMIM, HUMSAVAR
SLC2A1	GLUT1 DEFICIENCY SYNDROME	PS606777	ClinVar, OMIM, HUMSAVAR
MT-TE	DIABETES AND DEAFNESS, MATERNALLY INHERITED	520000	OMIM
SAMD9	TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL	610455	ClinVar, OMIM, HUMSAVAR
IRS2	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	OMIM
INS	HYPERPROINSULINEMIA	616214	OMIM, HUMSAVAR
ROR2	BRACHYDACTYLY, TYPE B1	113000	ClinVar, OMIM
LONP1	CODAS SYNDROME	600373	ClinVar, OMIM, HUMSAVAR
AGXT	HYPEROXALURIA, PRIMARY	PS259900	ClinVar, OMIM, HUMSAVAR
CLEC7A	ASPERGILLOSIS, SUSCEPTIBILITY TO	614079	OMIM
KCNJ10	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE	612780	ClinVar, OMIM, HUMSAVAR
NLRP1	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1	606579	ClinVar, OMIM, HUMSAVAR
SF3B1	MYELODYSPLASTIC SYNDROME	614286	OMIM
RFX6	MITCHELL-RILEY SYNDROME	615710	ClinVar, OMIM, HUMSAVAR
RAG2	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS	233650	ClinVar, OMIM, HUMSAVAR
FAM177A1	MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE	248000	ClinVar
LCT	LACTASE DEFICIENCY, CONGENITAL	223000	ClinVar, OMIM, HUMSAVAR
ALOX5AP	STROKE, ISCHEMIC	601367	OMIM
REN	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE	PS162000	ClinVar, OMIM, HUMSAVAR
NIN	SECKEL SYNDROME	PS210600	ClinVar, OMIM, HUMSAVAR
CTNNB1	PILOMATRIXOMA	132600	ClinVar, OMIM, HUMSAVAR
AFP	ALPHA-FETOPROTEIN DEFICIENCY	615969	ClinVar, OMIM
PIEZO2	ARTHROGRYPOSIS, DISTAL, TYPE 3	114300	ClinVar, OMIM, HUMSAVAR
BBS1	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM, HUMSAVAR
RELN	LISSENCEPHALY	PS607432	ClinVar, OMIM
HNF1B	RENAL CYSTS AND DIABETES SYNDROME	137920	ClinVar, OMIM, HUMSAVAR
NLGN3	ASPERGER SYNDROME, SUSCEPTIBILITY TO	PS608638	ClinVar, OMIM, HUMSAVAR
SPG21	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
RIN2	MACS SYNDROME	613075	OMIM
KALRN	CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5	608901	ClinVar, OMIM
PON1	MICROVASCULAR COMPLICATIONS OF DIABETES	PS603933	ClinVar, OMIM
CTSC	HAIM-MUNK SYNDROME	245010	ClinVar, OMIM, HUMSAVAR
ICAM1	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
HOXD13	SYNDACTYLY, TYPE V	186300	ClinVar, OMIM, HUMSAVAR
PIGL	COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME	280000	ClinVar, OMIM, HUMSAVAR
NEU1	HYDROPS FETALIS, NONIMMUNE	236750	ClinVar
FGFR2	CROUZON SYNDROME	123500	ClinVar, OMIM, HUMSAVAR
PMPCA	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2	213200	ClinVar, OMIM
GJC2	LYMPHEDEMA, HEREDITARY	PS153100	ClinVar, OMIM, HUMSAVAR
WT1	NEPHROTIC SYNDROME	PS256300	ClinVar, OMIM, HUMSAVAR
MT-ND3	LEIGH SYNDROME	256000	HUMSAVAR
KCTD7	EPILEPSY, PROGRESSIVE MYOCLONIC	PS254800	ClinVar, OMIM, HUMSAVAR
GJB2	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
GLE1	LETHAL CONGENITAL CONTRACTURE SYNDROME	PS253310	ClinVar, OMIM, HUMSAVAR
HMMR	BREAST CANCER	114480	OMIM
MATN3	EPIPHYSEAL DYSPLASIA, MULTIPLE	PS132400	ClinVar, OMIM, HUMSAVAR
SLC35A2	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	ClinVar, OMIM, HUMSAVAR
NRAS	RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER	614470	ClinVar, OMIM, HUMSAVAR
DYRK1A	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
CSF3R	NEUTROPHILIA, HEREDITARY	162830	OMIM, HUMSAVAR
DSP	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	603829	ClinVar
ALOX5	ASTHMA, SUSCEPTIBILITY TO	600807	OMIM
ZFPM2	46,XY SEX REVERSAL	PS400044	ClinVar, OMIM, HUMSAVAR
TUBB4A	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
CRYGS	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
SLC12A3	GITELMAN SYNDROME	263800	OMIM, HUMSAVAR
PLEC	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY	226670	ClinVar, OMIM
CD55	BLOOD GROUP, CROMER SYSTEM	613793	OMIM
MRPL44	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
TULP1	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM, HUMSAVAR
MYH3	ARTHROGRYPOSIS, DISTAL, TYPE 2A	193700	ClinVar, OMIM, HUMSAVAR
CHD8	AUTISM, SUSCEPTIBLITY TO	PS209850	ClinVar, OMIM
LAMA2	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A	607855	ClinVar, OMIM, HUMSAVAR
SLCO1B3	HYPERBILIRUBINEMIA	PS237450	ClinVar, OMIM
CFH	COMPLEMENT FACTOR H DEFICIENCY	609814	ClinVar, OMIM, HUMSAVAR
MMP13	METAPHYSEAL DYSPLASIA, SPAHR TYPE	250400	ClinVar, HUMSAVAR
SETBP1	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
SCN9A	ERYTHERMALGIA, PRIMARY	133020	ClinVar, OMIM, HUMSAVAR
PACS1	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
PROM1	CONE-ROD DYSTROPHY 2	120970	ClinVar
KCNJ18	THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2	613239	ClinVar, OMIM, HUMSAVAR
NF2	MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO	607174	OMIM
CDKN2A	MELANOMA-ASTROCYTOMA SYNDROME	155755	OMIM
EYA1	BRANCHIOOTORENAL SYNDROME 1	113650	ClinVar, OMIM, HUMSAVAR
KCNQ1	SUDDEN INFANT DEATH SYNDROME	272120	ClinVar
EXOSC8	PONTOCEREBELLAR HYPOPLASIA, TYPE 1C	616081	ClinVar, OMIM, HUMSAVAR
GPD1L	BRUGADA SYNDROME	PS601144	ClinVar, OMIM, HUMSAVAR
ATP13A2	PARKINSON DISEASE	PS168600	ClinVar, OMIM, HUMSAVAR
ITGB4	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	226650	ClinVar, OMIM, HUMSAVAR
TPMT	THIOPURINES, POOR METABOLISM OF	PS610460	ClinVar, OMIM, HUMSAVAR
KRAS	JUVENILE MYELOMONOCYTIC LEUKEMIA	607785	ClinVar
LEPR	LEPTIN RECEPTOR DEFICIENCY	614963	ClinVar, OMIM
G6PC	GLYCOGEN STORAGE DISEASE IB	232220	ClinVar
IGHMBP2	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
THBD	THROMBOPHILIA	PS188050	ClinVar, OMIM, HUMSAVAR
RET	HIRSCHSPRUNG DISEASE	PS142623	ClinVar, OMIM, HUMSAVAR
REEP1	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB	614751	ClinVar, OMIM
EIF2AK3	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS	226980	OMIM, HUMSAVAR
DNAJB2	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5	614881	ClinVar, OMIM
RAD54L	LYMPHOMA, NON-HODGKIN, FAMILIAL	605027	ClinVar, OMIM
FKBP10	BRUCK SYNDROME 1	259450	ClinVar, OMIM, HUMSAVAR
HOXA2	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE	612290	OMIM, HUMSAVAR
POT1	GLIOMA	PS137800	ClinVar, OMIM, HUMSAVAR
MMP13	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE	602111	OMIM, HUMSAVAR
NAGPA	STUTTERING, FAMILIAL PERSISTENT	PS184450	ClinVar
CCND1	COLORECTAL CANCER	114500	OMIM
SCN4A	PARAMYOTONIA CONGENITA OF VON EULENBURG	168300	ClinVar, OMIM, HUMSAVAR
MECP2	ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS	300673	OMIM
CD40	IMMUNODEFICIENCY WITH HYPER-IGM	PS308230	ClinVar, OMIM, HUMSAVAR
SLC25A13	CITRULLINEMIA, TYPE II, ADULT-ONSET	603471	ClinVar, OMIM
PHF8	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
LPIN1	MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE	268200	ClinVar, OMIM
NAGLU	MUCOPOLYSACCHARIDOSES	PS607014	ClinVar, OMIM, HUMSAVAR
ABHD5	CHANARIN-DORFMAN SYNDROME	275630	ClinVar, OMIM, HUMSAVAR
HTR2A	ALCOHOL DEPENDENCE	103780	OMIM
GDF5	MULTIPLE SYNOSTOSES SYNDROME	PS186500	ClinVar, OMIM, HUMSAVAR
DNAI2	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
MIF	RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE	604302	OMIM
F2	PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2	614390	ClinVar, OMIM
OAT	GYRATE ATROPHY OF CHOROID AND RETINA	258870	ClinVar, OMIM, HUMSAVAR
NONO	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM
ITIH4	HYPERCHOLESTEROLEMIA, FAMILIAL	143890	OMIM
C10orf11	OCULOCUTANEOUS ALBINISM	PS203100	ClinVar, OMIM
GALT	GALACTOSEMIA	230400	ClinVar, OMIM, HUMSAVAR
ATP1B1	HYPERTENSION, ESSENTIAL	145500	OMIM
MATR3	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
FOXI1	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
EGLN1	HEMOGLOBIN, HIGH ALTITUDE ADAPTATION	609070	ClinVar, OMIM
MECOM	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA	PS605432	ClinVar, OMIM
PSEN1	PICK DISEASE OF BRAIN	172700	ClinVar, OMIM
ZDHHC15	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	OMIM
HMGA1	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	OMIM
ZNF423	NEPHRONOPHTHISIS	PS256100	ClinVar, OMIM, HUMSAVAR
HELLS	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES	PS242860	ClinVar, OMIM
GRN	FRONTOTEMPORAL DEMENTIA	600274	ClinVar
FGF20	PARKINSON DISEASE	PS168600	ClinVar
SLC19A1	GASTROINTESTINAL STROMAL TUMOR	606764	ClinVar
TGFB1	CYSTIC FIBROSIS	219700	ClinVar, OMIM
IRF4	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN	PS227220	ClinVar, OMIM
MED12	OPITZ-KAVEGGIA SYNDROME	305450	ClinVar, OMIM, HUMSAVAR
NRAS	JUVENILE MYELOMONOCYTIC LEUKEMIA	607785	ClinVar, HUMSAVAR
KIT	TESTICULAR GERM CELL TUMOR	273300	ClinVar, OMIM
EXT1	EXOSTOSES, MULTIPLE, TYPE I	133700	ClinVar, OMIM, HUMSAVAR
TCTN1	JOUBERT SYNDROME	PS213300	ClinVar, OMIM
PDP1	PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY	PS312170	ClinVar, OMIM
MT-TA	NEPHROPATHY, CHRONIC TUBULOINTERSTITIAL	551200	OMIM
DAG1	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	PS236670	ClinVar, OMIM, HUMSAVAR
PSENEN	ACNE INVERSA	PS142690	OMIM
PCNT	MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II	210720	ClinVar, OMIM
TBX18	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT	PS610805	ClinVar, OMIM, HUMSAVAR
RYR1	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA	255320	ClinVar, OMIM, HUMSAVAR
MT-ND6	LEBER OPTIC ATROPHY	535000	HUMSAVAR
CASR	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8	612899	ClinVar, OMIM, HUMSAVAR
HRAS	BLADDER CANCER	109800	OMIM
SHOXY	LERI-WEILL DYSCHONDROSTEOSIS	127300	ClinVar, OMIM
GDF1	CONOTRUNCAL HEART MALFORMATIONS	217095	OMIM, HUMSAVAR
PTCH1	BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1	605462	OMIM, HUMSAVAR
KCNH2	LONG QT SYNDROME	PS192500	ClinVar, OMIM, HUMSAVAR
DDHD1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
HGSNAT	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
MLH1	MISMATCH REPAIR CANCER SYNDROME	276300	ClinVar, OMIM, HUMSAVAR
DDX41	LEUKEMIA, ACUTE MYELOID	601626	ClinVar
SPARC	OSTEOGENESIS IMPERFECTA	PS166200	OMIM, HUMSAVAR
TNNT2	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
TGFB1	CAMURATI-ENGELMANN DISEASE	131300	ClinVar, OMIM, HUMSAVAR
SPINK1	TROPICAL CALCIFIC PANCREATITIS	608189	ClinVar, OMIM, HUMSAVAR
HNRNPA1	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
ITGB4	EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA	226730	ClinVar, OMIM, HUMSAVAR
PIEZO1	DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA	194380	ClinVar, OMIM, HUMSAVAR
SLC22A18	RHABDOMYOSARCOMA, EMBRYONAL, 1	268210	OMIM
WWC1	MEMORY QUANTITATIVE TRAIT LOCUS	615602	ClinVar, OMIM
COL11A1	STICKLER SYNDROME	PS108300	ClinVar, OMIM, HUMSAVAR
TMEM67	NEPHRONOPHTHISIS	PS256100	ClinVar, OMIM, HUMSAVAR
CLCN5	DENT DISEASE	PS300009	ClinVar, OMIM, HUMSAVAR
QARS	MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY	615760	ClinVar, OMIM, HUMSAVAR
ZMYND11	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
TNF	ASTHMA, SUSCEPTIBILITY TO	600807	ClinVar, OMIM
CAV3	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT	PS159000	ClinVar, OMIM, HUMSAVAR
PPOX	PORPHYRIA VARIEGATA	176200	ClinVar, OMIM, HUMSAVAR
IFT80	SHORT-RIB THORACIC DYSPLASIA	PS208500	ClinVar, OMIM, HUMSAVAR
FAM20A	AMELOGENESIS IMPERFECTA	PS104500	ClinVar, OMIM, HUMSAVAR
MCM6	LACTOSE INTOLERANCE, ADULT TYPE	223100	OMIM
FAM111A	KENNY-CAFFEY SYNDROME	PS127000	ClinVar, OMIM, HUMSAVAR
RPS19	DIAMOND-BLACKFAN ANEMIA	PS105650	OMIM, HUMSAVAR
TRIOBP	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
CASP10	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	603909	ClinVar, OMIM, HUMSAVAR
CASQ2	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	PS604772	ClinVar, OMIM, HUMSAVAR
GFI1B	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM
DIS3L2	PERLMAN SYNDROME	267000	ClinVar, OMIM, HUMSAVAR
TMEM127	PHEOCHROMOCYTOMA	171300	OMIM, HUMSAVAR
SALL2	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE	216820	OMIM
CTSF	CEROID LIPOFUSCINOSES	PS256730	ClinVar, OMIM, HUMSAVAR
SLC9A3R1	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC	PS612286	ClinVar, OMIM, HUMSAVAR
HSPB1	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	608634	ClinVar, OMIM, HUMSAVAR
DCHS1	VAN MALDERGEM SYNDROME	PS601390	ClinVar, OMIM, HUMSAVAR
CCL2	NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO	182940	OMIM
KCNH1	TEMPLE-BARAITSER SYNDROME	611816	ClinVar, OMIM, HUMSAVAR
HOXD13	BRACHYDACTYLY, TYPE D	113200	ClinVar, OMIM, HUMSAVAR
SLC35A3	ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES	615553	ClinVar, OMIM
GALC	KRABBE DISEASE	245200	ClinVar, OMIM, HUMSAVAR
FAN1	INTERSTITIAL NEPHRITIS, KARYOMEGALIC	614817	ClinVar, OMIM, HUMSAVAR
KRT83	MONILETHRIX	158000	ClinVar, OMIM, HUMSAVAR
BRCA1	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO	PS604370	ClinVar, OMIM, HUMSAVAR
HBB	HEINZ BODY ANEMIAS	140700	OMIM
G6PD	ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY	300908	OMIM, HUMSAVAR
BMP15	OVARIAN DYSGENESIS	PS233300	ClinVar, OMIM, HUMSAVAR
TUBB4A	LEUKODYSTROPHY, HYPOMYELINATING	PS312080	ClinVar, OMIM, HUMSAVAR
NBN	LEUKEMIA, ACUTE LYMPHOBLASTIC	613065	OMIM
AXIN2	COLORECTAL CANCER	114500	OMIM
ARL6IP1	SPASTIC PARAPLEGIA	PS303350	OMIM
CYP2R1	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B	600081	ClinVar, OMIM, HUMSAVAR
HES7	SPONDYLOCOSTAL DYSOSTOSIS	PS277300	ClinVar, OMIM, HUMSAVAR
SDHA	MITOCHONDRIAL COMPLEX II DEFICIENCY	252011	OMIM, HUMSAVAR
CEP290	JOUBERT SYNDROME	PS213300	ClinVar, OMIM, HUMSAVAR
TTR	HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC	145680	ClinVar, OMIM, HUMSAVAR
NEK2	RETINITIS PIGMENTOSA	PS268000	OMIM
VCL	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
NEK1	SHORT-RIB THORACIC DYSPLASIA	PS208500	ClinVar, OMIM, HUMSAVAR
TLR2	LEPROSY, SUSCEPTIBILITY TO, 3	246300	ClinVar, OMIM
WNT5A	ROBINOW SYNDROME	PS268310	ClinVar, OMIM, HUMSAVAR
CASP8	BREAST CANCER	114480	OMIM
VDR	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	277440	ClinVar, OMIM, HUMSAVAR
PDGFRL	COLORECTAL CANCER	114500	OMIM, HUMSAVAR
AMPD2	SPASTIC PARAPLEGIA	PS303350	OMIM
BRCA1	BREAST CANCER	114480	HUMSAVAR
IGBP1	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	OMIM
MTRR	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLE COMPLEMENTATION TYPE	236270	ClinVar, OMIM, HUMSAVAR
CIB2	USHER SYNDROME	PS276900	ClinVar, OMIM, HUMSAVAR
APP	ALZHEIMER DISEASE	104300	ClinVar, OMIM, HUMSAVAR
SYN1	EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS	300491	OMIM
HOXD10	VERTICAL TALUS, CONGENITAL	192950	ClinVar, OMIM, HUMSAVAR
HRAS	NEVUS, EPIDERMAL	162900	ClinVar, OMIM
BCPR	BREAST CANCER	114480	OMIM
ITM2B	CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1	176500	ClinVar, OMIM
GATA2	MYELODYSPLASTIC SYNDROME	614286	ClinVar, OMIM, HUMSAVAR
SRCAP	FLOATING-HARBOR SYNDROME	136140	ClinVar, OMIM
NRAS	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME	163200	ClinVar, OMIM
NOTCH3	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1	125310	ClinVar, OMIM, HUMSAVAR
VPS13A	CHOREOACANTHOCYTOSIS	200150	ClinVar, OMIM, HUMSAVAR
CYP4F22	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE	PS242300	ClinVar, OMIM, HUMSAVAR
PIK3CA	COWDEN DISEASE	PS158350	ClinVar, OMIM, HUMSAVAR
DNAJC19	3-METHYLGLUTACONIC ACIDURIA	PS250950	ClinVar, OMIM
DISC1	SCHIZOPHRENIA	181500	OMIM
NECTIN1	OROFACIAL CLEFT	PS119530	ClinVar, OMIM
KCNE2	LONG QT SYNDROME	PS192500	ClinVar, OMIM, HUMSAVAR
DIABLO	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
GTF2H5	TRICHOTHIODYSTROPHY	PS601675	ClinVar, OMIM, HUMSAVAR
PROC	THROMBOPHILIA	PS188050	ClinVar, OMIM, HUMSAVAR
HTRA1	CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	600142	ClinVar, OMIM, HUMSAVAR
BCS1L	BJORNSTAD SYNDROME	262000	ClinVar, OMIM, HUMSAVAR
CCDC170	ESTROGEN RESISTANCE	615363	ClinVar
NBAS	INFANTILE LIVER FAILURE SYNDROME	PS615438	OMIM, HUMSAVAR
LEMD3	BUSCHKE-OLLENDORFF SYNDROME	166700	ClinVar, OMIM
EPG5	VICI SYNDROME	242840	ClinVar, OMIM, HUMSAVAR
LIPN	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE	PS242300	OMIM
DSG1	ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IGE	615508	ClinVar, OMIM
DHODH	POSTAXIAL ACROFACIAL DYSOSTOSIS	263750	ClinVar, OMIM, HUMSAVAR
RAD50	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER	613078	ClinVar, OMIM
PDZD7	USHER SYNDROME	PS276900	ClinVar, OMIM
PDHA1	PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY	PS312170	ClinVar, OMIM, HUMSAVAR
DRD5	BLEPHAROSPASM, BENIGN ESSENTIAL	606798	OMIM
GHR	LARON SYNDROME	262500	OMIM, HUMSAVAR
IL6R	SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS	614689	ClinVar, OMIM
GNAI2	VENTRICULAR TACHYCARDIA, FAMILIAL	192605	OMIM
ACE	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	608446	OMIM
DCTN1	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB	607641	ClinVar, OMIM, HUMSAVAR
GH1	KOWARSKI SYNDROME	262650	OMIM, HUMSAVAR
ZDHHC9	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
WDR36	GLAUCOMA 1, OPEN ANGLE, G	609887	ClinVar, OMIM, HUMSAVAR
GYPC	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
ERCC6	COCKAYNE SYNDROME B	133540	ClinVar, OMIM, HUMSAVAR
TP63	OROFACIAL CLEFT	PS119530	ClinVar, OMIM, HUMSAVAR
RIPPLY2	SPONDYLOCOSTAL DYSOSTOSIS	PS277300	ClinVar, OMIM
OSBPL2	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	OMIM
PLEKHG5	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	611067	ClinVar, OMIM, HUMSAVAR
DGAT1	DIARRHEA, CONGENITAL	PS214700	ClinVar, OMIM
NLRP1	CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA	615225	ClinVar, OMIM, HUMSAVAR
GSC	SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES	602471	ClinVar, OMIM
SCN4B	ATRIAL FIBRILLATION, FAMILIAL	PS608583	ClinVar, OMIM, HUMSAVAR
UMOD	GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA	609886	OMIM, HUMSAVAR
TBX21	ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE	208550	OMIM
NBN	NIJMEGEN BREAKAGE SYNDROME	251260	ClinVar, OMIM
COL2A1	SPONDYLOPERIPHERAL DYSPLASIA	271700	OMIM
DDX58	SINGLETON-MERTEN SYNDROME	PS182250	ClinVar, OMIM, HUMSAVAR
CACNA1F	CONE-ROD DYSTROPHY, X-LINKED, 3	300476	ClinVar, OMIM
ATL1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
CDAN1	ANEMIA, CONGENITAL DYSERYTHROPOIETIC	PS224120	ClinVar, OMIM, HUMSAVAR
LIPC	HEPATIC LIPASE DEFICIENCY	614025	ClinVar, OMIM, HUMSAVAR
TAF1	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM
OPA3	3-METHYLGLUTACONIC ACIDURIA	PS250950	ClinVar, OMIM
TGFBI	CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE	121820	ClinVar, OMIM, HUMSAVAR
TFRC	IMMUNODEFICIENCY 46	616740	ClinVar, OMIM
TRPS1	TRICHORHINOPHALANGEAL SYNDROME, TYPE I	190350	ClinVar, OMIM, HUMSAVAR
HFM1	PREMATURE OVARIAN FAILURE 9	615724	ClinVar, OMIM, HUMSAVAR
SNIP1	PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM	614501	ClinVar, OMIM, HUMSAVAR
FGF10	APLASIA OF LACRIMAL AND SALIVARY GLANDS	180920	ClinVar, OMIM
LRPAP1	MYOPIA	PS160700	OMIM
NUP155	ATRIAL FIBRILLATION, FAMILIAL	PS608583	ClinVar, OMIM, HUMSAVAR
KIT	LEUKEMIA, ACUTE MYELOID	601626	ClinVar, OMIM
CITED2	ATRIAL SEPTAL DEFECT	PS108800	OMIM
DGKE	NEPHROTIC SYNDROME	PS256300	ClinVar, OMIM, HUMSAVAR
SMAD9	BARE LYMPHOCYTE SYNDROME, TYPE II	209920	ClinVar
ANK2	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	PS604772	ClinVar
TGFBI	CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE	608470	ClinVar, OMIM, HUMSAVAR
TGFBR1	LOEYS-DIETZ SYNDROME	PS609192	ClinVar, OMIM, HUMSAVAR
ECEL1	ARTHROGRYPOSIS, DISTAL, TYPE 5D	615065	ClinVar, OMIM, HUMSAVAR
SLC30A8	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM
PEX2	PEROXISOME BIOGENESIS DISORDER	PS214100	ClinVar, OMIM, HUMSAVAR
CASP8	HEPATOCELLULAR CARCINOMA	114550	OMIM
EMP2	NEPHROTIC SYNDROME	PS256300	ClinVar, OMIM, HUMSAVAR
ACD	DYSKERATOSIS CONGENITA	PS127550	OMIM, HUMSAVAR
PLCG2	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME	PS120100	OMIM
EYS	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
TCF4	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL	PS136800	ClinVar, OMIM
CACNA1D	SINOATRIAL NODE DYSFUNCTION AND DEAFNESS	614896	OMIM
KRT18	CIRRHOSIS, FAMILIAL	215600	OMIM, HUMSAVAR
TBX20	ATRIAL SEPTAL DEFECT	PS108800	ClinVar, OMIM, HUMSAVAR
LAMB3	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	226650	ClinVar, OMIM, HUMSAVAR
KCNE1	JERVELL AND LANGE-NIELSEN SYNDROME 2	612347	ClinVar, OMIM, HUMSAVAR
FZD6	NAIL DISORDER, NONSYNDROMIC CONGENITAL	PS161050	ClinVar, OMIM, HUMSAVAR
CACNB2	CARDIAC ARRHYTHMIA	115000	ClinVar
CLCN7	OSTEOPETROSIS, AUTOSOMAL DOMINANT	PS607634	ClinVar, OMIM, HUMSAVAR
GATA4	VENTRICULAR SEPTAL DEFECT	PS614429	ClinVar, OMIM, HUMSAVAR
EMX2	SCHIZENCEPHALY	269160	OMIM
KIF7	AL-GAZALI-BAKALINOVA SYNDROME	607131	OMIM
MT-ND2	LEBER OPTIC ATROPHY	535000	HUMSAVAR
PAX2	PAPILLORENAL SYNDROME	120330	ClinVar, OMIM, HUMSAVAR
CTLA4	CELIAC DISEASE	PS212750	ClinVar, OMIM
NT5C2	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
ERLIN2	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
CD81	IMMUNODEFICIENCY, COMMON VARIABLE	PS607594	OMIM
MC1R	OCULOCUTANEOUS ALBINISM	PS203100	OMIM
RHAG	OVERHYDRATED HEREDITARY STOMATOCYTOSIS	185000	ClinVar, OMIM
WNT1	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16	615221	ClinVar, OMIM
SLC35A2	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
STAMBP	MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME	614261	ClinVar, OMIM, HUMSAVAR
NOG	BRACHYDACTYLY, TYPE B2	611377	ClinVar, OMIM, HUMSAVAR
RPGR	MACULAR DEGENERATION, X-LINKED ATROPHIC	300834	OMIM
WWOX	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12	614322	ClinVar, OMIM, HUMSAVAR
SLC39A4	ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE	201100	ClinVar, OMIM, HUMSAVAR
ALDH6A1	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	614105	ClinVar, OMIM, HUMSAVAR
CEBPA	LEUKEMIA, ACUTE MYELOID	601626	ClinVar, OMIM, HUMSAVAR
GNB3	HYPERTENSION, ESSENTIAL	145500	OMIM
CYP2U1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
TIMP3	SORSBY FUNDUS DYSTROPHY	136900	ClinVar, OMIM, HUMSAVAR
TBX4	ISCHIOCOXOPODOPATELLAR SYNDROME	147891	ClinVar, OMIM, HUMSAVAR
FSHR	OVARIAN DYSGENESIS	PS233300	ClinVar, OMIM, HUMSAVAR
TPRN	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
DNAH8	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar
PDX1	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	OMIM
DYSF	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
TP63	LIMB-MAMMARY SYNDROME	603543	OMIM
CD36	CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7	610938	ClinVar, OMIM
SMARCA2	NICOLAIDES-BARAITSER SYNDROME	601358	ClinVar, OMIM, HUMSAVAR
CABP4	CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE	610427	ClinVar, OMIM, HUMSAVAR
MPI	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
RET	MULTIPLE ENDOCRINE NEOPLASIA	PS131100	ClinVar, OMIM, HUMSAVAR
GYPC	BLOOD GROUP, GERBICH SYSTEM	616089	OMIM
FOXP1	ATRIOVENTRICULAR SEPTAL DEFECT	PS606215	ClinVar
IL1B	CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2	608316	ClinVar
PADI4	RHEUMATOID ARTHRITIS	180300	OMIM
FA2H	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
PAX6	GILLESPIE SYNDROME	206700	ClinVar, OMIM
CDC42	TAKENOUCHI-KOSAKI SYNDROME	616737	ClinVar, OMIM
GPR179	NIGHT BLINDNESS, CONGENITAL STATIONARY	PS310500	ClinVar, OMIM, HUMSAVAR
LIPH	HYPOTRICHOSIS	PS605389	OMIM, HUMSAVAR
SLC36A2	HYPERGLYCINURIA	138500	ClinVar, OMIM, HUMSAVAR
ACTN4	FOCAL SEGMENTAL GLOMERULOSCLEROSIS	PS603278	ClinVar, OMIM, HUMSAVAR
KRAS	BREAST CANCER	114480	OMIM
AQP2	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL	125800	OMIM, HUMSAVAR
SPRED1	LEGIUS SYNDROME	611431	ClinVar, OMIM, HUMSAVAR
SPG20	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
NRAS	COLORECTAL CANCER	114500	OMIM
SCN1A	EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS	PS604233	ClinVar, OMIM, HUMSAVAR
NDUFAF6	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	HUMSAVAR
FBN1	ACROMICRIC DYSPLASIA	102370	ClinVar, OMIM, HUMSAVAR
MASTL	THROMBOCYTOPENIA 2	188000	ClinVar, OMIM, HUMSAVAR
CCDC114	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
GDF5	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY	228900	OMIM, HUMSAVAR
APOE	MACULAR DEGENERATION, AGE-RELATED	PS603075	OMIM
C8orf37	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
GGCX	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF	PS277450	ClinVar, OMIM, HUMSAVAR
ELANE	CYCLIC NEUTROPENIA	162800	OMIM, HUMSAVAR
ETFDH	MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY	231680	ClinVar, OMIM, HUMSAVAR
ALDH3A2	SJOGREN-LARSSON SYNDROME	270200	ClinVar, OMIM, HUMSAVAR
RPS28	DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS	606164	ClinVar, OMIM
TSPYL1	SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME	608800	OMIM
PKHD1	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE	263200	ClinVar, OMIM, HUMSAVAR
GJC2	LEUKODYSTROPHY, HYPOMYELINATING	PS312080	ClinVar, OMIM, HUMSAVAR
COCH	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
B3GALNT1	BLOOD GROUP, P1PK SYSTEM	111400	OMIM
SIX1	BRANCHIOOTIC SYNDROME 3	608389	ClinVar, OMIM, HUMSAVAR
TH	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	605407	OMIM, HUMSAVAR
ANXA5	PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3	614391	ClinVar, OMIM
CAT	ACATALASEMIA	614097	OMIM
PLG	PLASMINOGEN DEFICIENCY, TYPE I	217090	OMIM, HUMSAVAR
DCAF8	GIANT AXONAL NEUROPATHY	PS256850	ClinVar, OMIM, HUMSAVAR
CLEC7A	FAMILIAL CANDIDIASIS	PS114580	ClinVar, OMIM
CEP41	JOUBERT SYNDROME	PS213300	ClinVar, OMIM
NKX2-5	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS	PS275200	ClinVar, OMIM, HUMSAVAR
NBEAL2	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM, HUMSAVAR
PYCR2	LEUKODYSTROPHY, HYPOMYELINATING	PS312080	ClinVar, OMIM, HUMSAVAR
ATP8B1	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1	243300	ClinVar, OMIM, HUMSAVAR
GBE1	POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM	263570	OMIM, HUMSAVAR
STAG3	PREMATURE OVARIAN FAILURE 8	615723	ClinVar, OMIM
CYP1B1	GLAUCOMA 3, PRIMARY CONGENITAL, A	231300	ClinVar, OMIM, HUMSAVAR
CTDP1	CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY	604168	ClinVar, OMIM
XPC	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A	278700	ClinVar
TMEM38B	OSTEOGENESIS IMPERFECTA	PS166200	OMIM
ACTN2	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
PLEKHM1	OSTEOPETROSIS, AUTOSOMAL RECESSIVE	PS259700	ClinVar, OMIM
CD79A	AGAMMAGLOBULINEMIA	PS601495	ClinVar, OMIM
POMC	OBESITY	601665	OMIM
MYO7A	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
BCS1L	LEIGH SYNDROME	256000	OMIM
FN1	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS	PS137950	ClinVar, OMIM, HUMSAVAR
COL6A1	BETHLEM MYOPATHY	PS158810	ClinVar, OMIM, HUMSAVAR
MUC7	ASTHMA, SUSCEPTIBILITY TO	600807	OMIM
BLMH	ALZHEIMER DISEASE	104300	OMIM
C1QTNF5	LATE-ONSET RETINAL DEGENERATION	605670	ClinVar, OMIM, HUMSAVAR
CACNG2	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
MMP8	PRETERM PREMATURE RUPTURE OF THE MEMBRANES	610504	ClinVar
PAX9	TOOTH AGENESIS, SELECTIVE	PS106600	ClinVar, OMIM, HUMSAVAR
ABCA4	STARGARDT DISEASE 1	248200	ClinVar, OMIM, HUMSAVAR
EHBP1	PROSTATE CANCER, HEREDITARY, 12	611868	ClinVar, OMIM
FANCI	FANCONI ANEMIA	PS227650	ClinVar, OMIM, HUMSAVAR
SLC22A18	BREAST CANCER	114480	OMIM
CHEK2	PROSTATE CANCER	176807	OMIM, HUMSAVAR
ERMAP	BLOOD GROUP--SCIANNA SYSTEM	111750	OMIM
ATP7B	WILSON DISEASE	277900	ClinVar, OMIM, HUMSAVAR
FSHR	TWINNING, DIZYGOTIC	276400	OMIM
MMADHC	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE	277410	ClinVar, OMIM, HUMSAVAR
PIK3R1	AGAMMAGLOBULINEMIA	PS601495	ClinVar, OMIM
LCAT	LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY	245900	OMIM, HUMSAVAR
EHMT1	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
PRCD	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
ERCC5	CEREBROOCULOFACIOSKELETAL SYNDROME	PS214150	ClinVar, OMIM
BRCA1	FANCONI ANEMIA	PS227650	ClinVar
PSTPIP1	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	604416	ClinVar, OMIM, HUMSAVAR
DSG2	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	PS604772	ClinVar
OPN1MW	BLUE CONE MONOCHROMACY	303700	ClinVar, OMIM, HUMSAVAR
PARK2	OVARIAN CANCER	167000	OMIM
GNA11	HYPOCALCEMIA	PS601198	ClinVar, OMIM, HUMSAVAR
EMG1	BOWEN-CONRADI SYNDROME	211180	ClinVar, OMIM, HUMSAVAR
CRB2	FOCAL SEGMENTAL GLOMERULOSCLEROSIS	PS603278	ClinVar, OMIM, HUMSAVAR
SURF1	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM
TNNT2	COSTELLO SYNDROME	218040	ClinVar
TINF2	DYSKERATOSIS CONGENITA	PS127550	ClinVar, OMIM, HUMSAVAR
SHOC2	NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR	607721	ClinVar, OMIM, HUMSAVAR
COL10A1	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	156500	ClinVar, OMIM, HUMSAVAR
PTPRC	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE	608971	ClinVar, OMIM
SLC2A10	ARTERIAL TORTUOSITY SYNDROME	208050	ClinVar, OMIM, HUMSAVAR
TSC2	TUBEROUS SCLEROSIS	PS191100	ClinVar, OMIM, HUMSAVAR
SNTA1	LONG QT SYNDROME	PS192500	ClinVar, OMIM, HUMSAVAR
TJP2	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4	615878	ClinVar, OMIM
IMPG2	MACULAR DYSTROPHY, VITELLIFORM	PS153840	ClinVar, OMIM, HUMSAVAR
WT1	FRASIER SYNDROME	136680	OMIM, HUMSAVAR
WWOX	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
SDCCAG8	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM
ADRA2B	EPILEPSY, FAMILIAL ADULT MYOCLONIC	PS601068	OMIM
MMACHC	MACULAR DYSTROPHY, CONCENTRIC ANNULAR	153870	ClinVar
LYRM7	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8	615838	ClinVar, OMIM, HUMSAVAR
ZFPM2	TETRALOGY OF FALLOT	187500	ClinVar, OMIM, HUMSAVAR
AKAP9	LONG QT SYNDROME	PS192500	ClinVar, OMIM, HUMSAVAR
VPS11	LEUKODYSTROPHY, HYPOMYELINATING	PS312080	ClinVar, OMIM
GRM6	NIGHT BLINDNESS, CONGENITAL STATIONARY	PS310500	ClinVar, OMIM, HUMSAVAR
DCAF17	WOODHOUSE-SAKATI SYNDROME	241080	OMIM
ERCC3	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B	610651	ClinVar, OMIM, HUMSAVAR
PPM1K	MAPLE SYRUP URINE DISEASE	PS248600	OMIM
WT1	WILMS TUMOR	PS194070	ClinVar, OMIM, HUMSAVAR
FAM20C	RAINE SYNDROME	259775	ClinVar, OMIM, HUMSAVAR
SCP2	LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY	613724	OMIM
MET	AUTISM, SUSCEPTIBLITY TO	PS209850	ClinVar
KRT16	PACHYONYCHIA CONGENITA	PS167200	ClinVar, OMIM, HUMSAVAR
CFHR3	HEMOLYTIC UREMIC SYNDROME	PS235400	OMIM
DTNA	LEFT VENTRICULAR NONCOMPACTION	PS604169	ClinVar, OMIM, HUMSAVAR
LZTS1	ESOPHAGEAL CANCER	133239	OMIM
GATA2	LEUKEMIA, ACUTE MYELOID	601626	OMIM
TBC1D4	DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5	616087	ClinVar, OMIM
ACVR2B	HETEROTAXY, VISCERAL	PS306955	ClinVar, OMIM, HUMSAVAR
CRIPT	SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES	615789	OMIM
CATSPER1	SPERMATOGENIC FAILURE	PS258150	ClinVar, OMIM
MT-TS2	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	540000	OMIM
TRAF3	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED	PS610551	ClinVar, OMIM, HUMSAVAR
MECP2	RETT SYNDROME	312750	ClinVar, OMIM, HUMSAVAR
HNF1A	RENAL CELL CARCINOMA, NONPAPILLARY	144700	OMIM
AIP	PITUITARY ADENOMA, PROLACTIN-SECRETING	600634	ClinVar, OMIM
LGI1	EPILEPSY, FAMILIAL TEMPORAL LOBE	PS600512	ClinVar, OMIM, HUMSAVAR
SLITRK1	TRICHOTILLOMANIA	613229	OMIM
F5	THROMBOPHILIA	PS188050	ClinVar, OMIM, HUMSAVAR
IFT122	CRANIOECTODERMAL DYSPLASIA	PS218330	ClinVar, OMIM, HUMSAVAR
CEP57	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME	PS257300	ClinVar, OMIM
USF1	HYPERLIPIDEMIA, COMBINED, 1	602491	OMIM
FMR1	FRAGILE X MENTAL RETARDATION SYNDROME	300624	ClinVar, OMIM, HUMSAVAR
VANGL1	SACRAL DEFECT WITH ANTERIOR MENINGOCELE	600145	OMIM, HUMSAVAR
HINT1	NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE	137200	ClinVar, OMIM, HUMSAVAR
SEC23B	ANEMIA, CONGENITAL DYSERYTHROPOIETIC	PS224120	ClinVar, OMIM, HUMSAVAR
DCXR	PENTOSURIA	260800	ClinVar, OMIM
HBG2	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1	141749	ClinVar, OMIM
KCNT1	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
SDHC	PARAGANGLIOMAS	PS168000	ClinVar, OMIM
CTLA4	HASHIMOTO THYROIDITIS	140300	OMIM
CYC1	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6	615453	ClinVar, OMIM, HUMSAVAR
GNS	MUCOPOLYSACCHARIDOSIS, TYPE IIID	252940	ClinVar, OMIM, HUMSAVAR
HSPB8	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
CETP	HYPERALPHALIPOPROTEINEMIA 1	143470	ClinVar, OMIM, HUMSAVAR
KRT74	ECTODERMAL DYSPLASIA (SELECT EXAMPLES)	PS305100	ClinVar, OMIM, HUMSAVAR
CYP1B1	GLAUCOMA 1, OPEN ANGLE, A	137750	HUMSAVAR
PLA2G7	ASTHMA, SUSCEPTIBILITY TO	600807	OMIM
NUP214	LEUKEMIA, ACUTE LYMPHOBLASTIC	613065	OMIM
MPO	MYELOPEROXIDASE DEFICIENCY	254600	ClinVar, OMIM, HUMSAVAR
BSND	BARTTER SYNDROME	PS601678	ClinVar, OMIM, HUMSAVAR
GDF5	OSTEOARTHRITIS SUSCEPTIBILITY 5	612400	ClinVar, OMIM
SCARF2	VAN DEN ENDE-GUPTA SYNDROME	600920	ClinVar, OMIM, HUMSAVAR
GUSB	HYDROPS FETALIS, NONIMMUNE	236750	ClinVar
FKRP	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
WNT3	TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE	273395	ClinVar, OMIM
SDHD	PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	606864	OMIM
TACR3	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
PNKP	ATAXIA-OCULOMOTOR APRAXIA 4	616267	ClinVar, OMIM, HUMSAVAR
PHF6	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
TGFBI	CORNEAL DYSTROPHY, LATTICE TYPE IIIA	608471	ClinVar, OMIM, HUMSAVAR
USH2A	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
ENPP1	COLE DISEASE	615522	ClinVar, OMIM, HUMSAVAR
POT1	MELANOMA, CUTANEOUS MALIGNANT	PS155600	ClinVar, OMIM, HUMSAVAR
GLI3	HYPOTHALAMIC HAMARTOMAS	241800	OMIM
L1CAM	CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	304100	OMIM, HUMSAVAR
SLC26A3	DIARRHEA, CONGENITAL	PS214700	ClinVar, OMIM, HUMSAVAR
PRF1	LYMPHOMA, NON-HODGKIN, FAMILIAL	605027	ClinVar, OMIM
RPL35A	DIAMOND-BLACKFAN ANEMIA	PS105650	ClinVar, OMIM, HUMSAVAR
COX15	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2	615119	ClinVar, OMIM, HUMSAVAR
CNGB3	STARGARDT DISEASE 1	248200	ClinVar, OMIM, HUMSAVAR
MPZ	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
MYH6	SICK SINUS SYNDROME	PS608567	ClinVar, OMIM, HUMSAVAR
NSDHL	CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS	308050	OMIM, HUMSAVAR
PDE8B	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	614190	ClinVar, OMIM, HUMSAVAR
CWF19L1	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17	616127	ClinVar, OMIM
RET	THYROID CARCINOMA, FAMILIAL MEDULLARY	155240	ClinVar, OMIM, HUMSAVAR
IRF6	OROFACIAL CLEFT	PS119530	OMIM, HUMSAVAR
MT-TK	MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS	545000	OMIM
CCDC88C	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
CLCN5	HYPOPHOSPHATEMIC RICKETS	PS193100	OMIM, HUMSAVAR
TRPC3	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
RDX	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
MT-TE	MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT	500009	OMIM
DMPK	MYOTONIC DYSTROPHY	PS160900	ClinVar, OMIM
ACTG1	BARAITSER-WINTER SYNDROME	PS243310	ClinVar, OMIM, HUMSAVAR
H19	BECKWITH-WIEDEMANN SYNDROME	130650	ClinVar, OMIM
CCND1	VON HIPPEL-LINDAU SYNDROME	193300	OMIM
ACVR1	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	135100	ClinVar, OMIM, HUMSAVAR
NAGA	SCHINDLER DISEASE, TYPE I	609241	ClinVar, OMIM, HUMSAVAR
OTOF	AUDITORY NEUROPATHY	PS609129	ClinVar, OMIM, HUMSAVAR
SLC2A1	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12	614847	ClinVar, OMIM, HUMSAVAR
PLCG2	AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED	614878	ClinVar, OMIM, HUMSAVAR
ATR	SECKEL SYNDROME	PS210600	ClinVar, OMIM
NR3C1	GLUCOCORTICOID RESISTANCE, GENERALIZED	615962	ClinVar, OMIM, HUMSAVAR
ZEB1	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS	PS122000	ClinVar, OMIM
NF1	JUVENILE MYELOMONOCYTIC LEUKEMIA	607785	ClinVar, OMIM
SLC2A1	STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS	608885	ClinVar, OMIM
ATP2A1	BRODY MYOPATHY	601003	OMIM, HUMSAVAR
TWIST2	ABLEPHARON-MACROSTOMIA SYNDROME	200110	ClinVar, OMIM, HUMSAVAR
COL9A2	EPIPHYSEAL DYSPLASIA, MULTIPLE	PS132400	ClinVar, OMIM
LHX3	PITUITARY HORMONE DEFICIENCY, COMBINED	PS613038	ClinVar, OMIM, HUMSAVAR
FGFR1	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
DISC1	SCHIZOPHRENIA 9	604906	ClinVar, OMIM
NOP56	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM
PTCH2	BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1	605462	OMIM
SLC26A2	DIASTROPHIC DYSPLASIA	222600	ClinVar, OMIM
MEN1	HYPERPARATHYROIDISM 1	145000	ClinVar, HUMSAVAR
CD244	RHEUMATOID ARTHRITIS	180300	ClinVar, OMIM
FGF9	MULTIPLE SYNOSTOSES SYNDROME	PS186500	ClinVar, OMIM, HUMSAVAR
TOR1A	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
KCNJ11	DIABETES MELLITUS, TRANSIENT NEONATAL, 3	610582	ClinVar, OMIM, HUMSAVAR
PPP1R15B	MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2	616817	ClinVar, OMIM
ATRX	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	301040	ClinVar, OMIM, HUMSAVAR
CYCS	THROMBOCYTOPENIA 4	612004	ClinVar, OMIM, HUMSAVAR
KRT13	WHITE SPONGE NEVUS	PS193900	ClinVar, OMIM, HUMSAVAR
SLC14A1	BLOOD GROUP--KIDD SYSTEM	111000	OMIM
HNMT	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM
TUBA1A	LISSENCEPHALY	PS607432	ClinVar, OMIM, HUMSAVAR
DNAL1	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM, HUMSAVAR
RPL10	AUTISM, SUSCEPTIBLITY TO	PS209850	ClinVar, OMIM, HUMSAVAR
CNTNAP2	CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME	610042	OMIM
SOS1	NOONAN SYNDROME	PS163950	ClinVar, OMIM, HUMSAVAR
KRT74	WOOLLY HAIR, AUTOSOMAL DOMINANT	194300	ClinVar, OMIM, HUMSAVAR
MT-CO3	LEIGH SYNDROME	256000	ClinVar
RAG1	ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY	609889	OMIM, HUMSAVAR
NBAS	SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY	614800	ClinVar, OMIM, HUMSAVAR
STK4	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS	614868	ClinVar, OMIM
TAPBP	BARE LYMPHOCYTE SYNDROME, TYPE I	604571	OMIM
ATL3	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	PS162400	ClinVar, OMIM, HUMSAVAR
LMNB2	LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO	608709	ClinVar, OMIM, HUMSAVAR
FYCO1	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
MAG	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
MTHFD1	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE	601634	OMIM, HUMSAVAR
DPM1	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
CDH1	BREAST CANCER	114480	OMIM
LRP5	POLYCYSTIC KIDNEY DISEASE 1	173900	ClinVar
PMVK	POROKERATOSIS	PS175800	OMIM
COL11A2	STICKLER SYNDROME	PS108300	ClinVar, OMIM
MYL2	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
MMP1	PULMONARY DISEASE, CHRONIC OBSTRUCTIVE	606963	OMIM
METTL23	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM
BRCA2	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO	PS604370	ClinVar, OMIM
KCNN4	DEHYDRATED HEREDITARY STOMATOCYTOSIS 2	616689	OMIM, HUMSAVAR
NDRG1	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM
GNAT2	ACHROMATOPSIA 4	613856	ClinVar, OMIM
ALDH5A1	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	271980	ClinVar, OMIM, HUMSAVAR
TRMT10A	MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1	616033	ClinVar, OMIM, HUMSAVAR
SYT14	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11	614229	ClinVar, OMIM, HUMSAVAR
GPC3	WILMS TUMOR	PS194070	ClinVar, OMIM
OPTN	GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO	606657	ClinVar, OMIM
MCPH1	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	ClinVar, OMIM, HUMSAVAR
CHI3L1	SCHIZOPHRENIA	181500	OMIM
DTNBP1	SCHIZOPHRENIA	181500	OMIM
ANKH	CHONDROCALCINOSIS 2	118600	ClinVar, OMIM, HUMSAVAR
ADGRV1	SEIZURES, FAMILIAL FEBRILE	PS121210	ClinVar, OMIM
PLCB1	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	OMIM
POMGNT1	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B	PS613155	ClinVar, OMIM, HUMSAVAR
IL21R	IGE RESPONSIVENESS, ATOPIC	147050	OMIM
TGFB2	LOEYS-DIETZ SYNDROME	PS609192	ClinVar, OMIM, HUMSAVAR
ACTB	DYSTONIA, JUVENILE-ONSET	607371	ClinVar, OMIM, HUMSAVAR
BCL11A	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5	142335	ClinVar
NOTCH3	INFANTILE MYOFIBROMATOSIS	PS228550	ClinVar, OMIM, HUMSAVAR
ATP2B3	SPINOCEREBELLAR ATAXIA, X-LINKED 1	302500	ClinVar, OMIM, HUMSAVAR
FMR1	PREMATURE OVARIAN FAILURE 1	311360	ClinVar, OMIM
MEGF8	CARPENTER SYNDROME	PS201000	ClinVar, OMIM, HUMSAVAR
APC	FAMAILIAL ADENOMATOUS POLYPOSIS	PS175100	ClinVar, OMIM, HUMSAVAR
EYA1	BRANCHIOOTIC SYNDROME 1	602588	ClinVar, OMIM, HUMSAVAR
COL2A1	KNIEST DYSPLASIA	156550	OMIM, HUMSAVAR
ETFA	MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY	231680	OMIM, HUMSAVAR
PDGFRB	MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	131440	OMIM
ABCC9	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
PMM2	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
MTHFR	THROMBOPHILIA	PS188050	OMIM
EDN3	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	209880	OMIM
PMP22	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
CYB5A	METHEMOGLOBINEMIA TYPE IV	250790	ClinVar, OMIM
CEP290	SENIOR-LOKEN SYNDROME 6	610189	ClinVar, OMIM, HUMSAVAR
RASA1	PARKES WEBER SYNDROME	608355	OMIM
PTEN	MELANOMA, CUTANEOUS MALIGNANT	PS155600	OMIM
HADHA	MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY	609015	ClinVar, OMIM, HUMSAVAR
DMP1	HYPOPHOSPHATEMIC RICKETS	PS193100	ClinVar, OMIM
NAGLU	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
EPM2A	EPILEPSY, PROGRESSIVE MYOCLONIC	PS254800	ClinVar, OMIM, HUMSAVAR
ARSB	MUCOPOLYSACCHARIDOSES	PS607014	ClinVar, OMIM, HUMSAVAR
SLC24A5	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN	PS227220	ClinVar, OMIM
MPZ	ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA	180800	OMIM, HUMSAVAR
KANK1	SPASTIC QUADRIPLEGIC CEREBRAL PALSY	PS603513	OMIM
CFH	HEMOLYTIC UREMIC SYNDROME	PS235400	ClinVar, OMIM, HUMSAVAR
THOC2	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
PDE11A	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2	610475	ClinVar, OMIM
ALAS2	PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED	300752	ClinVar, OMIM
PTPRF	BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF	PS113700	OMIM
NOP10	DYSKERATOSIS CONGENITA	PS127550	ClinVar, OMIM, HUMSAVAR
IFIH1	SINGLETON-MERTEN SYNDROME	PS182250	ClinVar, OMIM, HUMSAVAR
SGCE	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
PDGFRB	KOSAKI OVERGROWTH SYNDROME	616592	ClinVar, OMIM
PAX6	ANIRIDIA	106210	ClinVar, OMIM, HUMSAVAR
MT-TH	MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS	545000	OMIM
CASP10	GASTRIC CANCER	613659	OMIM, HUMSAVAR
MAN1B1	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM, HUMSAVAR
MTPAP	SPASTIC ATAXIA	PS108600	ClinVar, HUMSAVAR
IL11RA	CRANIOSYNOSTOSIS AND DENTAL ANOMALIES	614188	ClinVar, OMIM, HUMSAVAR
OPCML	OVARIAN CANCER	167000	OMIM, HUMSAVAR
CHRNB2	EPILEPSY, NOCTURNAL FRONTAL LOBE	PS600513	ClinVar, OMIM, HUMSAVAR
ATM	BREAST CANCER	114480	OMIM
CHSY1	TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME	605282	ClinVar, OMIM, HUMSAVAR
IL1B	GASTRIC CANCER, HEREDITARY DIFFUSE	137215	OMIM
AUH	3-METHYLGLUTACONIC ACIDURIA	PS250950	ClinVar, OMIM, HUMSAVAR
ODC1	COLORECTAL CANCER	114500	OMIM
BEST1	MACULAR DYSTROPHY, VITELLIFORM	PS153840	ClinVar, OMIM, HUMSAVAR
AK2	RETICULAR DYSGENESIS	267500	ClinVar, OMIM, HUMSAVAR
CAV3	RIPPLING MUSCLE DISEASE	606072	OMIM, HUMSAVAR
BAAT	HYPERCHOLANEMIA, FAMILIAL	607748	ClinVar, OMIM, HUMSAVAR
MT-TF	MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS	545000	OMIM
SLC4A1	RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA	611590	ClinVar, OMIM, HUMSAVAR
NRAS	NOONAN SYNDROME	PS163950	ClinVar, OMIM, HUMSAVAR
NIPA1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
ASPSCR1	ALVEOLAR SOFT PART SARCOMA	606243	OMIM
GCGR	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM
F12	ANGIOEDEMA, HEREDITARY, TYPE III	610618	ClinVar, OMIM, HUMSAVAR
GAN	GIANT AXONAL NEUROPATHY	PS256850	ClinVar, OMIM, HUMSAVAR
KCNQ3	SEIZURES, BENIGN FAMILIAL NEONATAL	PS121200	ClinVar, OMIM, HUMSAVAR
FREM1	DIAPHRAGMATIC HERNIA, CONGENITAL	142340	ClinVar
NR5A1	PREMATURE OVARIAN FAILURE 7	612964	ClinVar, OMIM, HUMSAVAR
POLR1C	LEUKODYSTROPHY, HYPOMYELINATING	PS312080	ClinVar, OMIM, HUMSAVAR
CDH15	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
FBN1	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
MED17	MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY	613668	OMIM, HUMSAVAR
TP53	LYMPHOMA, NON-HODGKIN, FAMILIAL	605027	ClinVar
MECP2	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
COL1A1	EHLERS-DANLOS SYNDROME, CLASSIC TYPE	130000	ClinVar, OMIM, HUMSAVAR
FOXC1	IRIS HYPOPLASIA WITH GLAUCOMA	308500	ClinVar
TNFRSF11A	FAMILIAL EXPANSILE OSTEOLYSIS	174810	ClinVar, OMIM
RPGRIP1L	JOUBERT SYNDROME	PS213300	ClinVar, OMIM, HUMSAVAR
CHD7	CHARGE SYNDROME	214800	ClinVar, OMIM, HUMSAVAR
IL1RN	MICROVASCULAR COMPLICATIONS OF DIABETES	PS603933	ClinVar, OMIM
FMN2	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM
OSMR	AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS	PS105250	ClinVar, OMIM, HUMSAVAR
CNNM2	HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION	616418	ClinVar, OMIM, HUMSAVAR
SPRY2	IGA NEPHROPATHY	PS161950	ClinVar, OMIM
RAX2	CONE-ROD DYSTROPHY 11	610381	ClinVar, OMIM, HUMSAVAR
ACTC1	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
TPH2	ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7	613003	ClinVar, OMIM, HUMSAVAR
CERKL	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
CEACAM16	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
DCX	LISSENCEPHALY	PS607432	ClinVar, OMIM, HUMSAVAR
FBP1	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	229700	ClinVar, OMIM, HUMSAVAR
RBM8A	THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME	274000	ClinVar, OMIM
CACNA1A	EPISODIC ATAXIA	PS160120	ClinVar, OMIM, HUMSAVAR
MYO7A	RETINITIS PIGMENTOSA	PS268000	ClinVar
COL6A2	MYOSCLEROSIS, AUTOSOMAL RECESSIVE	255600	ClinVar, OMIM
ESR1	BREAST CANCER	114480	OMIM
PAX6	KERATITIS, HEREDITARY	148190	OMIM
MYH7	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
KANSL1	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
HLCS	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	253270	ClinVar, OMIM, HUMSAVAR
PSEN1	ACNE INVERSA	PS142690	OMIM
PEX13	PEROXISOME BIOGENESIS DISORDER	PS214100	ClinVar, OMIM, HUMSAVAR
TRPM6	HYPOMAGNESEMIA	PS602014	ClinVar, OMIM, HUMSAVAR
SZT2	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM
SMARCB1	COFFIN-SIRIS SYNDROME	PS135900	ClinVar, OMIM, HUMSAVAR
ABCC2	HYPERBILIRUBINEMIA	PS237450	ClinVar, OMIM, HUMSAVAR
SLC38A8	FOVEAL HYPOPLASIA	PS136520	ClinVar, OMIM, HUMSAVAR
ROGDI	KOHLSCHUTTER-TONZ SYNDROME	226750	ClinVar, OMIM
NLRP7	HYDATIDIFORM MOLE, RECURRENT	PS231090	ClinVar, OMIM, HUMSAVAR
GBA	GAUCHER DISEASE, TYPE III	231000	ClinVar, OMIM, HUMSAVAR
C8A	COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I	613790	ClinVar, OMIM
CASQ2	CARDIAC ARRHYTHMIA	115000	ClinVar
EIF4E	AUTISM, SUSCEPTIBLITY TO	PS209850	OMIM
ZMPSTE24	MANDIBULOACRAL DYSPLASIA WITH LIPODYSTROPHY	PS248370	ClinVar, OMIM, HUMSAVAR
C2orf71	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
IFT27	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM, HUMSAVAR
HPGD	HYPERTROPIC OSTEOARTHROPATHY, PRIMARY	PS259100	ClinVar, OMIM, HUMSAVAR
PDE10A	DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET	616921	ClinVar
IL6R	INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS	614752	ClinVar, OMIM
GALNS	MUCOPOLYSACCHARIDOSES	PS607014	ClinVar, OMIM, HUMSAVAR
SMN1	SPINAL MUSCULAR ATROPHY, TYPE IV	271150	OMIM
C10orf2	PERRAULT SYNDROME	PS233400	ClinVar, OMIM, HUMSAVAR
SGCB	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
DMD	MUSCULAR DYSTROPHY, DUCHENNE TYPE	310200	ClinVar, OMIM, HUMSAVAR
COL9A2	INTERVERTEBRAL DISC DISEASE	603932	OMIM, HUMSAVAR
EPHA2	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
CNNM2	HYPOMAGNESEMIA	PS602014	ClinVar, OMIM, HUMSAVAR
BICD2	SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT	PS158600	ClinVar, OMIM, HUMSAVAR
PTGDR	ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1	607277	ClinVar, OMIM
NAGA	KANZAKI DISEASE	609242	ClinVar, OMIM, HUMSAVAR
SCN3B	ATRIAL FIBRILLATION, FAMILIAL	PS608583	ClinVar, OMIM, HUMSAVAR
TTPA	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	277460	ClinVar, OMIM, HUMSAVAR
JAG1	ALAGILLE SYNDROME	PS118450	ClinVar, OMIM, HUMSAVAR
FGFR3	THANATOPHORIC DYSPLASIA, TYPE II	187601	ClinVar, OMIM, HUMSAVAR
KLK4	AMELOGENESIS IMPERFECTA	PS104500	ClinVar, OMIM
MBTPS2	IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME	308205	ClinVar, OMIM, HUMSAVAR
MYH9	FECHTNER SYNDROME	153640	ClinVar, OMIM, HUMSAVAR
AGRP	OBESITY	601665	OMIM
PPP1R17	HYPERCHOLESTEROLEMIA, FAMILIAL	143890	OMIM
FKRP	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B	PS613155	ClinVar, OMIM, HUMSAVAR
ITGA6	EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA	226730	OMIM
ARSA	METACHROMATIC LEUKODYSTROPHY	250100	ClinVar, OMIM, HUMSAVAR
ELAC2	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
KCNQ1	JERVELL AND LANGE-NIELSEN SYNDROME 1	220400	ClinVar, OMIM, HUMSAVAR
CHRNE	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
SLC4A11	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL	PS136800	ClinVar, OMIM, HUMSAVAR
BUB1B	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME	PS257300	ClinVar, OMIM, HUMSAVAR
KHK	FRUCTOSURIA, ESSENTIAL	229800	ClinVar, OMIM, HUMSAVAR
SLC6A20	HYPERGLYCINURIA	138500	ClinVar, OMIM
AHNAK	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
LIPC	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM
NDUFA1	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM, HUMSAVAR
CDKN2A	MELANOMA-PANCREATIC CANCER SYNDROME	606719	ClinVar, OMIM, HUMSAVAR
MED12	LEIOMYOMA, UTERINE	150699	ClinVar
TNNI3	FAMILIAL RESTRICTIVE CARDIOMYOPATHY	PS115210	ClinVar, OMIM, HUMSAVAR
FLNA	TERMINAL OSSEOUS DYSPLASIA	300244	ClinVar, OMIM
FGF23	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL	211900	ClinVar, OMIM, HUMSAVAR
PLOD1	EHLERS-DANLOS SYNDROME, TYPE VI	225400	ClinVar, OMIM, HUMSAVAR
SMN1	SPINAL MUSCULAR ATROPHY, TYPE III	253400	ClinVar, OMIM, HUMSAVAR
SDHB	COWDEN DISEASE	PS158350	ClinVar, OMIM
SAG	RETINITIS PIGMENTOSA	PS268000	OMIM
XPNPEP2	ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO	300909	ClinVar, OMIM
SETBP1	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME	269150	ClinVar, OMIM, HUMSAVAR
EPOR	ERYTHROCYTOSIS, FAMILIAL	PS133100	ClinVar, OMIM, HUMSAVAR
DVL3	ROBINOW SYNDROME	PS268310	ClinVar, OMIM
SCN2A	SEIZURES, BENIGN FAMILIAL INFANTILE	PS601764	ClinVar, OMIM, HUMSAVAR
ACAT1	ALPHA-METHYLACETOACETIC ACIDURIA	203750	OMIM, HUMSAVAR
CD209	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	607948	OMIM
PARN	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED	PS614742	ClinVar, OMIM, HUMSAVAR
UMOD	HYPERTENSION, ESSENTIAL	145500	ClinVar
CC2D2A	MECKEL SYNDROME	PS249000	ClinVar, OMIM, HUMSAVAR
ATP1A3	CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS	601338	ClinVar, OMIM, HUMSAVAR
STAT2	IMMUNODEFICIENCY 44	616636	ClinVar, OMIM
BRCA2	PROSTATE CANCER	176807	OMIM
NRAS	MELANOSIS, NEUROCUTANEOUS	249400	ClinVar, OMIM, HUMSAVAR
SLC16A12	CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA	612018	ClinVar, OMIM
IFT140	RETINITIS PIGMENTOSA	PS268000	ClinVar
DYM	DYGGVE-MELCHIOR-CLAUSEN DISEASE	223800	ClinVar, OMIM, HUMSAVAR
SEMA4A	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
STAT1	IMMUNODEFICIENCY 31B	613796	ClinVar, OMIM, HUMSAVAR
PIGY	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME	PS239300	ClinVar, OMIM
MYPN	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
MECP2	ANGELMAN SYNDROME	105830	ClinVar
SCN5A	LONG QT SYNDROME	PS192500	ClinVar, OMIM, HUMSAVAR
IFNG	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	OMIM
TRPM1	NIGHT BLINDNESS, CONGENITAL STATIONARY	PS310500	ClinVar, OMIM, HUMSAVAR
KMT2C	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar
SPECC1L	OPITZ GBBB SYNDROME	PS300000	ClinVar, OMIM, HUMSAVAR
FKBP14	EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS	614557	OMIM
CCDC40	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
ART4	BLOOD GROUP, DOMBROCK SYSTEM	616060	OMIM
ATP7A	MENKES DISEASE	309400	ClinVar, OMIM, HUMSAVAR
TGFBR2	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS	PS120435	ClinVar, OMIM, HUMSAVAR
SFTPC	SUFACTANT METABOLISM DYSFUNCTION, PULMONARY	PS265120	ClinVar, OMIM, HUMSAVAR
ALG13	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
DDB2	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E	278740	ClinVar, OMIM, HUMSAVAR
FOXE3	APHAKIA, CONGENITAL PRIMARY	610256	OMIM, HUMSAVAR
SH3PXD2B	FRANK-TER HAAR SYNDROME	249420	ClinVar, OMIM, HUMSAVAR
CAPN10	DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1	601283	OMIM
PRPF3	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
NGF	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	PS162400	ClinVar, OMIM, HUMSAVAR
TTN	MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY	611705	ClinVar, OMIM
SMN1	SPINAL MUSCULAR ATROPHY, TYPE II	253550	ClinVar, OMIM, HUMSAVAR
CYP11A1	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE	613743	ClinVar, OMIM, HUMSAVAR
LDLR	HYPERCHOLESTEROLEMIA, FAMILIAL	143890	ClinVar, OMIM, HUMSAVAR
PSEN2	ALZHEIMER DISEASE 4	606889	ClinVar, OMIM, HUMSAVAR
KRAS	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME	163200	ClinVar, OMIM
CAV3	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
CHRNA4	TOBACCO ADDICTION, SUSCEPTIBILITY TO	188890	OMIM
NSD1	BECKWITH-WIEDEMANN SYNDROME	130650	ClinVar, OMIM
GABRD	EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS	PS604233	ClinVar, OMIM, HUMSAVAR
PROM1	MACULAR DYSTROPHY, RETINAL, 2	608051	ClinVar, OMIM, HUMSAVAR
ORAI1	IMMUNODEFICIENCY 9	612782	ClinVar, OMIM, HUMSAVAR
DPYS	DIHYDROPYRIMIDINASE DEFICIENCY	222748	ClinVar, OMIM, HUMSAVAR
NECAP1	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM
TLR5	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1	601744	OMIM
LTC4S	LEUKOTRIENE C4 SYNTHASE DEFICIENCY	614037	OMIM
TUBB2A	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS	PS614039	ClinVar, OMIM, HUMSAVAR
COL5A1	AORTIC VALVE DISEASE	PS109730	ClinVar
BCAP31	DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION	300475	ClinVar, OMIM
KIF7	JOUBERT SYNDROME	PS213300	ClinVar, OMIM, HUMSAVAR
TCTN3	OROFACIODIGITAL SYNDROME IV	258860	ClinVar, OMIM
ACTN1	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM, HUMSAVAR
PAX4	DIABETES MELLITUS, KETOSIS-PRONE	612227	OMIM, HUMSAVAR
MYBPC1	ARTHROGRYPOSIS, DISTAL, TYPE 1B	614335	ClinVar, OMIM, HUMSAVAR
ACAN	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	165800	ClinVar, OMIM, HUMSAVAR
HNRNPK	AU-KLINE SYNDROME	616580	ClinVar, OMIM
PNPLA6	OLIVER-MCFARLANE SYNDROME	275400	ClinVar, OMIM, HUMSAVAR
SLC26A4	PENDRED SYNDROME	274600	ClinVar, OMIM, HUMSAVAR
CALM1	LONG QT SYNDROME	PS192500	ClinVar, OMIM, HUMSAVAR
FGFR3	MUENKE SYNDROME	602849	ClinVar, OMIM, HUMSAVAR
MCC	COLORECTAL CANCER	114500	OMIM
SIX1	BRANCHIOOTORENAL SYNDROME 1	113650	ClinVar
CPN1	CARBOXYPEPTIDASE N DEFICIENCY	212070	ClinVar, OMIM, HUMSAVAR
P3H2	MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION	614292	ClinVar, OMIM, HUMSAVAR
MASP1	3MC SYNDROME	PS257920	ClinVar, OMIM
RUNX2	CLEIDOCRANIAL DYSPLASIA	119600	ClinVar, OMIM, HUMSAVAR
RASA1	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	608354	ClinVar, OMIM, HUMSAVAR
TRPM7	AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1	105500	OMIM
PRF1	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2	603553	ClinVar, OMIM, HUMSAVAR
GNE	SIALURIA	269921	OMIM, HUMSAVAR
SMPD1	NIEMANN-PICK DISEASE, TYPE A	257200	ClinVar, OMIM, HUMSAVAR
SLC25A4	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MTDNA DELETIONS	PS157640	ClinVar, OMIM, HUMSAVAR
RB1	OSTEOGENIC SARCOMA	259500	OMIM
FANCG	FANCONI ANEMIA	PS227650	ClinVar, OMIM, HUMSAVAR
TERC	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED	PS614742	ClinVar, OMIM
BRIP1	BREAST CANCER	114480	OMIM, HUMSAVAR
HARS	USHER SYNDROME	PS276900	ClinVar, OMIM, HUMSAVAR
AFF4	CHOPS SYNDROME	616368	ClinVar, OMIM, HUMSAVAR
CA8	CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM	PS224050	ClinVar, OMIM, HUMSAVAR
PLA2G7	PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY	614278	ClinVar, OMIM, HUMSAVAR
FGFR3	TESTICULAR GERM CELL TUMOR	273300	OMIM, HUMSAVAR
PTEN	ENDOMETRIAL CANCER	608089	OMIM, HUMSAVAR
MT-ND1	DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL	500008	OMIM
PDGFRB	BASAL GANGLIA CALCIFICATION, IDIOPATHIC	PS213600	ClinVar, OMIM, HUMSAVAR
JAK2	ERYTHROCYTOSIS, FAMILIAL	PS133100	ClinVar, OMIM
NAA10	MICROPHTHALMIA, SYNDROMIC	PS309800	ClinVar, OMIM
EPCAM	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS	PS120435	OMIM
FAT4	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2	616006	ClinVar, OMIM, HUMSAVAR
SLC4A11	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	217400	ClinVar, OMIM, HUMSAVAR
CDK5RAP2	CORPUS CALLOSUM, AGENESIS OF	217990	ClinVar
CASR	HYPOCALCIURIC HYPERCALCEMIA	PS145980	ClinVar, OMIM, HUMSAVAR
LAMC2	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	226650	ClinVar, OMIM
CYP2C9	COUMARIN RESISTANCE	122700	OMIM
FOXD3	AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1	607836	ClinVar, OMIM
FCGR2C	THROMBOCYTOPENIC PURPURA, AUTOIMMUNE	188030	OMIM
SLC35D1	SCHNECKENBECKEN DYSPLASIA	269250	OMIM
GK	GLYCEROL KINASE DEFICIENCY	307030	ClinVar, OMIM, HUMSAVAR
ADAM17	NEONATAL INFLAMMATORY SKIN AND BOWEL DISEASE	PS614328	OMIM
SCNN1B	BRONCHIECTASIS	PS211400	ClinVar, OMIM, HUMSAVAR
TPCN2	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN	PS227220	ClinVar, OMIM
HSD3B2	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY	201810	ClinVar, OMIM, HUMSAVAR
SLITRK6	DEAFNESS AND MYOPIA	221200	ClinVar, OMIM
DNAJC3	ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS	616192	ClinVar, OMIM
NPR2	EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE	615923	ClinVar, OMIM, HUMSAVAR
LOXL1	EXFOLIATION SYNDROME	177650	OMIM
BTNL2	SARCOIDOSIS, SUSCEPTIBILITY TO, 2	612387	ClinVar, OMIM
IKBKG	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY	300291	ClinVar, OMIM, HUMSAVAR
SLC19A3	THIAMINE-RESPONSIVE DYSFUNCTION SYNDROME	PS249270	ClinVar, OMIM, HUMSAVAR
LMX1B	NAIL-PATELLA SYNDROME	161200	ClinVar, OMIM, HUMSAVAR
KIAA0586	JOUBERT SYNDROME	PS213300	ClinVar, OMIM, HUMSAVAR
LRTOMT	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
HEXB	SANDHOFF DISEASE	268800	ClinVar, OMIM, HUMSAVAR
SLC4A1	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
MET	RENAL CELL CARCINOMA, PAPILLARY, 1	605074	ClinVar, OMIM, HUMSAVAR
COX14	MITOCHONDRIAL COMPLEX IV DEFICIENCY	220110	OMIM
SLC12A5	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
SLC17A8	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
PQBP1	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
TBC1D24	MYOCLONIC EPILEPSY, FAMILIAL INFANTILE	605021	ClinVar, OMIM, HUMSAVAR
TP53	HEPATOCELLULAR CARCINOMA	114550	ClinVar, OMIM
INSR	DONOHUE SYNDROME	246200	OMIM, HUMSAVAR
MYC	BURKITT LYMPHOMA	113970	ClinVar, OMIM
STIL	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	ClinVar, OMIM, HUMSAVAR
IFT43	CRANIOECTODERMAL DYSPLASIA	PS218330	ClinVar, OMIM
GCK	DIABETES MELLITUS, PERMANENT NEONATAL	606176	ClinVar, OMIM
TBCK	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES	PS615419	ClinVar, OMIM
NOS3	ALZHEIMER DISEASE	104300	OMIM
APOE	ALZHEIMER DISEASE 2	104310	ClinVar, OMIM
MT-CO3	MYOGLOBINURIA, RECURRENT	550500	OMIM
PNPLA2	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY	610717	ClinVar, OMIM, HUMSAVAR
SCN1A	MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY	606369	ClinVar
PROP1	PITUITARY HORMONE DEFICIENCY, COMBINED	PS613038	ClinVar, OMIM, HUMSAVAR
PRKAG2	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	261740	ClinVar, OMIM, HUMSAVAR
POLR1A	ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE	616462	ClinVar, OMIM, HUMSAVAR
CLN6	CEROID LIPOFUSCINOSES	PS256730	ClinVar, OMIM, HUMSAVAR
PITX2	PETERS ANOMALY	604229	OMIM
TAS2R16	ALCOHOL DEPENDENCE	103780	OMIM
CA5A	CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO	615751	ClinVar, OMIM, HUMSAVAR
LTBP2	MARFAN SYNDROME	154700	ClinVar
COL9A2	STICKLER SYNDROME	PS108300	OMIM
KIF21A	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL	PS135700	ClinVar, OMIM, HUMSAVAR
NPHP4	SENIOR-LOKEN SYNDROME 4	606996	ClinVar, OMIM, HUMSAVAR
RECQL4	BALLER-GEROLD SYNDROME	218600	ClinVar, OMIM, HUMSAVAR
SLC26A2	ATELOSTEOGENESIS	PS108720	ClinVar, OMIM, HUMSAVAR
SLC2A4	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, HUMSAVAR
HSPA9	ANEMIA, SIDEROBLASTIC	PS300751	OMIM
GHSR	GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL	615925	ClinVar, OMIM, HUMSAVAR
SNRPN	PRADER-WILLI SYNDROME	176270	OMIM
MT-TS2	RETINITIS PIGMENTOSA-DEAFNESS SYNDROME	500004	OMIM
UCP1	OBESITY	601665	OMIM
MTR	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE	250940	ClinVar, OMIM, HUMSAVAR
GCSH	GLYCINE ENCEPHALOPATHY	605899	ClinVar, OMIM
TARS2	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
APC	DESMOID DISEASE, HEREDITARY	135290	OMIM
JUP	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	603829	ClinVar
HFE	ALZHEIMER DISEASE	104300	OMIM
DNAH5	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM, HUMSAVAR
FLNB	BOOMERANG DYSPLASIA	112310	OMIM, HUMSAVAR
MYH3	ARTHROGRYPOSIS, DISTAL, TYPE 8	178110	ClinVar, OMIM, HUMSAVAR
TERC	DYSKERATOSIS CONGENITA	PS127550	ClinVar, OMIM
ERMARD	PERIVENTRICULAR NODULAR HETEROTOPIA 6	615544	ClinVar, OMIM, HUMSAVAR
DNAAF1	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM, HUMSAVAR
SERPINH1	PRETERM PREMATURE RUPTURE OF THE MEMBRANES	610504	ClinVar, OMIM
CTSC	PAPILLON-LEFEVRE SYNDROME	245000	ClinVar, OMIM, HUMSAVAR
SLC5A5	THYROID DYSHORMONOGENESIS 1	274400	ClinVar, OMIM, HUMSAVAR
AKT1	BREAST CANCER	114480	OMIM, HUMSAVAR
POGZ	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
SLC6A2	ORTHOSTATIC INTOLERANCE	604715	OMIM, HUMSAVAR
HTR1A	PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT	614674	OMIM
CHRDL1	MEGALOCORNEA	309300	ClinVar, OMIM, HUMSAVAR
BCAM	BLOOD GROUP--LUTHERAN SYSTEM	111200	OMIM
TBCE	KENNY-CAFFEY SYNDROME	PS127000	OMIM
MT-TK	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	540000	OMIM
TNFRSF11B	PAGET DISEASE OF BONE	PS167250	ClinVar, OMIM
ADAR	RETICULATE PIGMENT DISORDERS	PS179850	ClinVar, OMIM, HUMSAVAR
COL5A2	EHLERS-DANLOS SYNDROME, CLASSIC TYPE	130000	ClinVar, OMIM, HUMSAVAR
ADNP	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
SLC5A7	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA	158580	OMIM
F13A1	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	608446	OMIM
ATXN3	PARKINSON DISEASE	PS168600	ClinVar
TYRP1	OCULOCUTANEOUS ALBINISM	PS203100	ClinVar, OMIM, HUMSAVAR
FGFR3	THANATOPHORIC DYSPLASIA, TYPE I	187600	ClinVar, OMIM, HUMSAVAR
IFNGR1	HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO	600263	OMIM
EFTUD2	MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE	610536	ClinVar, OMIM, HUMSAVAR
IL23R	INFLAMMATORY BOWEL DISEASE	PS266600	OMIM, HUMSAVAR
ERCC5	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	278780	ClinVar, OMIM, HUMSAVAR
ALPL	HYPOPHOSPHATASIA, CHILDHOOD	241510	OMIM, HUMSAVAR
WDR19	SENIOR-LOKEN SYNDROME 8	616307	ClinVar, OMIM, HUMSAVAR
EWSR1	EWING SARCOMA	612219	OMIM
NUP107	NEPHROTIC SYNDROME	PS256300	ClinVar, OMIM
GUCY1A3	MOYAMOYA DISEASE	PS252350	ClinVar, OMIM
ALDH4A1	HYPERPROLINEMIA, TYPE II	239510	ClinVar, OMIM, HUMSAVAR
GBE1	GLYCOGEN STORAGE DISEASE IV	232500	ClinVar, OMIM, HUMSAVAR
SETD5	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
KIF14	MECKEL SYNDROME	PS249000	ClinVar, OMIM
GPHN	MOLYBDENUM COFACTOR DEFICIENCY	PS252150	ClinVar, OMIM, HUMSAVAR
IL21	IMMUNODEFICIENCY, COMMON VARIABLE	PS607594	ClinVar, OMIM, HUMSAVAR
POLE	FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE	615139	ClinVar, OMIM
PAX3	RHABDOMYOSARCOMA 2	268220	OMIM
BCO1	HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT	115300	OMIM, HUMSAVAR
TUBG1	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS	PS614039	ClinVar, OMIM, HUMSAVAR
BRCA2	PANCREATIC CANCER, SUSCEPTIBILITY TO, 2	613347	OMIM
OVOL2	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS	PS122000	ClinVar, OMIM
SCO2	MYOPIA	PS160700	ClinVar, OMIM, HUMSAVAR
CSPP1	JOUBERT SYNDROME	PS213300	ClinVar, OMIM
PARK7	PARKINSON DISEASE	PS168600	ClinVar, OMIM, HUMSAVAR
NKX2-5	ASPLENIA, ISOLATED CONGENITAL	271400	ClinVar
TWIST1	CRANIOSYNOSTOSIS 1	123100	ClinVar, OMIM, HUMSAVAR
SUFU	MEDULLOBLASTOMA	155255	ClinVar, OMIM
STIM1	MYOPATHY, TUBULAR AGGREGATE	PS160565	ClinVar, OMIM, HUMSAVAR
SERPINH1	OSTEOGENESIS IMPERFECTA	PS166200	ClinVar, OMIM, HUMSAVAR
POLD1	MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME	615381	OMIM
EDN1	AURICULOCONDYLAR SYNDROME	PS602483	ClinVar, OMIM, HUMSAVAR
WNT4	MULLERIAN APLASIA AND HYPERANDROGENISM	158330	ClinVar, OMIM, HUMSAVAR
HR	HYPOTRICHOSIS	PS605389	ClinVar, OMIM
TGFB3	LOEYS-DIETZ SYNDROME	PS609192	ClinVar, OMIM, HUMSAVAR
MTO1	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
FGF8	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
PNKD	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
CSF2RB	SUFACTANT METABOLISM DYSFUNCTION, PULMONARY	PS265120	ClinVar, OMIM
RD3	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM
INS	DIABETES MELLITUS, PERMANENT NEONATAL	606176	ClinVar, OMIM, HUMSAVAR
RB1	BLADDER CANCER	109800	OMIM
CDC73	HYPERPARATHYROIDISM 2	145001	ClinVar, OMIM, HUMSAVAR
WDPCP	CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY	217085	ClinVar, OMIM, HUMSAVAR
MT-TD	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	540000	OMIM
CYP11B1	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	202010	ClinVar, OMIM, HUMSAVAR
STAP1	HYPERCHOLESTEROLEMIA, FAMILIAL	143890	ClinVar
NF1	NEUROFIBROMATOSIS, FAMILIAL SPINAL	162210	ClinVar, OMIM, HUMSAVAR
BRCA2	GLIOMA	PS137800	ClinVar, OMIM
LMBR1	POLYDACTYLY, PREAXIAL II	174500	ClinVar, OMIM
MLPH	GRISCELLI SYNDROME	PS214450	ClinVar, OMIM, HUMSAVAR
SPTB	SPHEROCYTOSIS, TYPE 2	616649	OMIM, HUMSAVAR
SCN5A	BRUGADA SYNDROME	PS601144	ClinVar, OMIM, HUMSAVAR
IRF5	INFLAMMATORY BOWEL DISEASE	PS266600	OMIM
DDX3X	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
ANGPTL3	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2	605019	ClinVar, OMIM
BBS9	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM, HUMSAVAR
PITPNM3	CONE-ROD DYSTROPHY 5	600977	ClinVar, OMIM, HUMSAVAR
LRRK2	PARKINSON DISEASE	PS168600	ClinVar, OMIM, HUMSAVAR
BRCA1	PANCREATIC CANCER, SUSCEPTIBILITY TO, 4	614320	OMIM
TUFM	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
TALDO1	TRANSALDOLASE DEFICIENCY	606003	ClinVar, OMIM
ADRB1	RESTING HEART RATE, VARIATION IN	607276	ClinVar, OMIM
FXYD2	HYPOMAGNESEMIA	PS602014	ClinVar, OMIM, HUMSAVAR
SLC2A9	HYPOURICEMIA, RENAL, 2	612076	ClinVar, OMIM, HUMSAVAR
USH1G	USHER SYNDROME	PS276900	ClinVar, OMIM, HUMSAVAR
MIB1	LEFT VENTRICULAR NONCOMPACTION	PS604169	ClinVar, OMIM, HUMSAVAR
GH1	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB	612781	ClinVar, OMIM, HUMSAVAR
KIAA0586	SHORT-RIB THORACIC DYSPLASIA	PS208500	ClinVar, OMIM
EIF2B1	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	603896	ClinVar, OMIM, HUMSAVAR
MPO	ALZHEIMER DISEASE	104300	OMIM
BANF1	PROGERIA	PS176670	ClinVar, OMIM, HUMSAVAR
CBL	NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA	613563	ClinVar, OMIM, HUMSAVAR
POMT2	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B	PS613155	ClinVar, OMIM, HUMSAVAR
KCTD17	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
TCTN3	JOUBERT SYNDROME	PS213300	ClinVar, OMIM, HUMSAVAR
C4A	COMPLEMENT COMPONENT 4A DEFICIENCY	614380	OMIM
VIM	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
ESR1	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	608446	OMIM
MT-ND4L	LEBER OPTIC ATROPHY	535000	HUMSAVAR
SMAD4	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME	175050	ClinVar, OMIM, HUMSAVAR
HLA-DRB1	RHEUMATOID ARTHRITIS	180300	OMIM
ADAM10	ALZHEIMER DISEASE 18	615590	ClinVar, OMIM, HUMSAVAR
DNAAF2	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
COL9A3	EPIPHYSEAL DYSPLASIA, MULTIPLE	PS132400	ClinVar, OMIM, HUMSAVAR
GFI1	NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS	607847	ClinVar, OMIM, HUMSAVAR
EPS8	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
COL2A1	AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY	608805	OMIM, HUMSAVAR
DRC1	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
SMARCE1	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar
TERC	PULMONARY FIBROSIS, IDIOPATHIC	178500	ClinVar
SOST	SCLEROSTEOSIS	PS269500	ClinVar, OMIM, HUMSAVAR
MSX2	PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA	168550	ClinVar, OMIM
SLC25A20	CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY	212138	ClinVar, OMIM, HUMSAVAR
PRKG1	AORTIC ANEURYSM, FAMILIAL THORACIC	PS607086	ClinVar, OMIM, HUMSAVAR
ISG15	IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION	616126	ClinVar, OMIM
FBN1	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT	129600	ClinVar, OMIM, HUMSAVAR
TPM2	ARTHROGRYPOSIS, DISTAL, TYPE 2B	601680	ClinVar, OMIM, HUMSAVAR
SLC25A12	HYPOMYELINATION, GLOBAL CEREBRAL	612949	ClinVar, OMIM, HUMSAVAR
IGSF1	HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT	300888	ClinVar, OMIM, HUMSAVAR
HBB	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
ACY1	AMINOACYLASE 1 DEFICIENCY	609924	ClinVar, OMIM, HUMSAVAR
AARS	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
GRN	FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED	607485	ClinVar, OMIM, HUMSAVAR
GLDC	GLYCINE ENCEPHALOPATHY	605899	ClinVar, OMIM, HUMSAVAR
LAMA4	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
PRPS1	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY	300661	OMIM, HUMSAVAR
B3GALNT1	BLOOD GROUP, GLOBOSIDE SYSTEM	615021	OMIM
MFSD8	CEROID LIPOFUSCINOSES	PS256730	ClinVar, OMIM, HUMSAVAR
GFRA1	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
CHD7	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
CLP1	PONTOCEREBELLAR HYPOPLASIA	PS607596	ClinVar, OMIM, HUMSAVAR
BAAT	HEMOLYTIC UREMIC SYNDROME	PS235400	ClinVar
NFKB1	IMMUNODEFICIENCY, COMMON VARIABLE	PS607594	ClinVar, OMIM
GJA8	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
FLNA	PERIVENTRICULAR NODULAR HETEROTOPIA 1	300049	ClinVar, OMIM, HUMSAVAR
PRPH2	FUNDUS ALBIPUNCTATUS	136880	OMIM
BBS5	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM, HUMSAVAR
HRAS	MELANOCYTIC NEVUS SYNDROME, CONGENITAL	137550	OMIM
PITX1	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY	119800	ClinVar, OMIM, HUMSAVAR
RNF213	MOYAMOYA DISEASE	PS252350	ClinVar, OMIM, HUMSAVAR
SUMF1	MULTIPLE SULFATASE DEFICIENCY	272200	ClinVar, OMIM, HUMSAVAR
F2	THROMBOPHILIA	PS188050	ClinVar, OMIM
SETBP1	LEUKEMIA, ACUTE MYELOID	601626	HUMSAVAR
SPG11	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM
KNG1	HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY	228960	ClinVar, OMIM
CCT5	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	256840	OMIM, HUMSAVAR
CUL7	THREE M SYNDROME	PS273750	ClinVar, OMIM, HUMSAVAR
ANKLE2	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	ClinVar, OMIM
GLE1	LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE	611890	ClinVar, OMIM, HUMSAVAR
ISCA2	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME	PS605711	ClinVar, OMIM, HUMSAVAR
IRF6	VAN DER WOUDE SYNDROME 1	119300	ClinVar, OMIM, HUMSAVAR
AGK	MITOCHONDRIAL DNA DEPLETION SYNDROME	PS603041	ClinVar, OMIM
AFP	ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF	615970	OMIM
TNNI2	ARTHROGRYPOSIS, DISTAL, TYPE 2B	601680	ClinVar, OMIM, HUMSAVAR
SHOXY	LANGER MESOMELIC DYSPLASIA	249700	ClinVar, OMIM
ROR2	ROBINOW SYNDROME	PS268310	ClinVar, OMIM, HUMSAVAR
PPARG	LIPODYSTROPHY, FAMILIAL PARTIAL	PS151660	ClinVar, OMIM, HUMSAVAR
CUL3	PSEUDOHYPOALDOSTERONISM, TYPE II	PS145260	ClinVar, OMIM, HUMSAVAR
DSE	EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2	615539	ClinVar, OMIM, HUMSAVAR
UROS	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	263700	ClinVar, OMIM, HUMSAVAR
NFKB2	IMMUNODEFICIENCY, COMMON VARIABLE	PS607594	ClinVar, OMIM
GLUD1	HYPERINSULINEMIA HYPOGLYCEMIA	PS256450	ClinVar, OMIM, HUMSAVAR
SCARB2	EPILEPSY, PROGRESSIVE MYOCLONIC	PS254800	ClinVar, OMIM, HUMSAVAR
DOCK6	ADAMS-OLIVER SYNDROME	PS100300	ClinVar, OMIM
PRSS56	MICROPHTHALMIA, ISOLATED	PS251600	ClinVar, OMIM, HUMSAVAR
FBN2	MACULAR DEGENERATION, EARLY-ONSET	616118	ClinVar, OMIM, HUMSAVAR
IFNAR2	HEPATITIS B VIRUS, SUSCEPTIBILITY TO	610424	ClinVar, OMIM
CD247	IMMUNODEFICIENCY 25	610163	OMIM
SERPINF1	OSTEOGENESIS IMPERFECTA	PS166200	ClinVar, OMIM
DHH	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY	607080	OMIM
PIGR	IGA NEPHROPATHY	PS161950	ClinVar
NCF4	GRANULOMATOUS DISEASE, CHRONIC	PS306400	ClinVar, OMIM, HUMSAVAR
CFD	COMPLEMENT FACTOR D DEFICIENCY	613912	ClinVar, OMIM, HUMSAVAR
OPTN	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
CEP135	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	OMIM
CD96	C SYNDROME	211750	OMIM, HUMSAVAR
ANO5	MIYOSHI MUSCULAR DYSTROPHY	PS254130	ClinVar, OMIM, HUMSAVAR
PEX7	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA	PS215100	ClinVar, OMIM, HUMSAVAR
FAT4	VAN MALDERGEM SYNDROME	PS601390	ClinVar, OMIM, HUMSAVAR
ZNF141	POLYDACTYLY, POSTAXIAL, TYPE A6	615226	ClinVar, OMIM, HUMSAVAR
COL8A2	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS	PS122000	ClinVar, OMIM, HUMSAVAR
CHI3L1	ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7	611960	ClinVar, OMIM
MYH6	HEART, MALFORMATION OF	140500	ClinVar
LARP7	ALAZAMI SYNDROME	615071	ClinVar, OMIM
FBXO31	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	OMIM
DYM	SMITH-MCCORT DYSPLASIA	PS607326	ClinVar, OMIM, HUMSAVAR
AXIN1	CAUDAL DUPLICATION ANOMALY	607864	OMIM
ANO5	GNATHODIAPHYSEAL DYSPLASIA	166260	ClinVar, OMIM, HUMSAVAR
TP53	GLIOMA	PS137800	ClinVar, OMIM
MTHFR	SCHIZOPHRENIA	181500	OMIM
NOTCH1	ADAMS-OLIVER SYNDROME	PS100300	ClinVar, OMIM, HUMSAVAR
IL10	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	ClinVar, OMIM
AGT	RENAL TUBULAR DYSGENESIS	267430	ClinVar, OMIM, HUMSAVAR
IFNG	TUBEROUS SCLEROSIS	PS191100	OMIM
CNTN5	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
FLNA	MELNICK-NEEDLES SYNDROME	309350	ClinVar, OMIM, HUMSAVAR
PLA2G6	PARKINSON DISEASE	PS168600	ClinVar, OMIM, HUMSAVAR
PROKR2	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
SLC34A1	FANCONI RENOTUBULAR SYNDROME	PS134600	ClinVar, OMIM
GHR	GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL	615925	ClinVar
DCHS1	MITRAL VALVE PROLAPSE, MYXOMATOUS	PS157700	ClinVar, OMIM, HUMSAVAR
SH2D1A	LYMPHOPROLIFERATIVE SYNDROME	PS308240	ClinVar, OMIM, HUMSAVAR
FRZB	OSTEOARTHRITIS SUSCEPTIBILITY 1	165720	ClinVar, OMIM, HUMSAVAR
TPM1	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
BMPR1B	ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE	609441	ClinVar, OMIM, HUMSAVAR
GJB2	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS	149200	ClinVar, OMIM, HUMSAVAR
TNNC1	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
COL2A1	PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE	151210	ClinVar, OMIM, HUMSAVAR
HUWE1	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
ZNF335	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	ClinVar, OMIM, HUMSAVAR
CACNA1B	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
SCN5A	CARDIAC ARRHYTHMIA	115000	ClinVar
NF2	SCHWANNOMATOSIS	PS162091	OMIM
AGT	HYPERTENSION, ESSENTIAL	145500	OMIM
ALX3	FRONTONASAL DYSPLASIA	PS136760	ClinVar, OMIM, HUMSAVAR
GLI3	PALLISTER-HALL SYNDROME	146510	ClinVar, OMIM
MSX1	OROFACIAL CLEFT	PS119530	ClinVar, OMIM, HUMSAVAR
CTRC	PANCREATITIS, HEREDITARY	167800	ClinVar, OMIM, HUMSAVAR
KRT5	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED	131800	ClinVar, OMIM, HUMSAVAR
BRCA2	MEDULLOBLASTOMA	155255	ClinVar, OMIM
CYLD	CYLINDROMATOSIS, FAMILIAL	132700	ClinVar, OMIM
FAR1	PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER	616154	ClinVar, OMIM, HUMSAVAR
KCND3	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
CDH1	ENDOMETRIAL CANCER	608089	OMIM
SLC35C1	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	ClinVar, OMIM, HUMSAVAR
MGP	KEUTEL SYNDROME	245150	ClinVar, OMIM
FIBP	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT	120200	ClinVar
POMT1	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	PS236670	ClinVar, OMIM, HUMSAVAR
DSP	CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA	605676	ClinVar, OMIM
NAGS	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	237310	ClinVar, OMIM, HUMSAVAR
MFSD8	MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT	616170	ClinVar, OMIM, HUMSAVAR
OTOA	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
RAB23	CARPENTER SYNDROME	PS201000	ClinVar, OMIM, HUMSAVAR
RB1CC1	BREAST CANCER	114480	OMIM
FANCD2	FANCONI ANEMIA	PS227650	ClinVar, OMIM, HUMSAVAR
ASAH1	SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY	159950	ClinVar, OMIM, HUMSAVAR
BVES	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM
ANK1	SPHEROCYTOSIS, TYPE 1	182900	ClinVar, OMIM, HUMSAVAR
CHIT1	CHITOTRIOSIDASE DEFICIENCY	614122	ClinVar, OMIM
ARHGEF9	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
HCRT	NARCOLEPSY	PS161400	ClinVar, OMIM, HUMSAVAR
NALCN	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES	PS615419	ClinVar, OMIM, HUMSAVAR
RAD51D	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO	PS604370	ClinVar, OMIM
RBBP8	SECKEL SYNDROME	PS210600	ClinVar, OMIM, HUMSAVAR
RAB3GAP2	WARBURG MICRO SYNDROME	PS600118	ClinVar, OMIM
WFS1	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
SCNN1A	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE	264350	ClinVar, OMIM, HUMSAVAR
CYP27A1	CEREBROTENDINOUS XANTHOMATOSIS	213700	ClinVar, OMIM, HUMSAVAR
DNM2	MYOPATHY, CENTRONUCLEAR	PS160150	ClinVar, OMIM, HUMSAVAR
RLBP1	FUNDUS ALBIPUNCTATUS	136880	ClinVar, OMIM, HUMSAVAR
IL13	ASTHMA, SUSCEPTIBILITY TO	600807	ClinVar, OMIM
LPL	HYPERLIPOPROTEINEMIA, TYPE I	238600	ClinVar, OMIM, HUMSAVAR
HSPG2	DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE	224410	ClinVar, OMIM
NEB	NEMALINE MYOPATHY	PS161800	ClinVar, OMIM
ADAMTSL4	ECTOPIA LENTIS ET PUPILLAE	225200	ClinVar, OMIM
HFE	HEMOCHROMATOSIS	PS235200	ClinVar, OMIM, HUMSAVAR
KISS1	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
GAL	EPILEPSY, FAMILIAL TEMPORAL LOBE	PS600512	OMIM, HUMSAVAR
SLC4A1	SPHEROCYTOSIS, TYPE 4	612653	ClinVar, OMIM, HUMSAVAR
LCRB	BETA-THALASSEMIA	613985	OMIM
TP63	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	106260	OMIM, HUMSAVAR
FLVCR2	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	225790	ClinVar, OMIM, HUMSAVAR
KCNJ11	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM
IFITM3	INFLUENZA, SEVERE, SUSCEPTIBILITY TO	614680	OMIM
GNPTAB	MUCOLIPIDOSIS III ALPHA/BETA	252600	ClinVar, OMIM, HUMSAVAR
KLF1	BLOOD GROUP--LUTHERAN INHIBITOR	111150	OMIM
MAX	PHEOCHROMOCYTOMA	171300	OMIM
CTNNB1	COLORECTAL CANCER	114500	OMIM, HUMSAVAR
SMOC2	DENTIN DYSPLASIA, TYPE I	125400	OMIM
ADAMTS13	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	274150	ClinVar, OMIM, HUMSAVAR
CYP2A6	TOBACCO ADDICTION, SUSCEPTIBILITY TO	188890	OMIM
F9	THROMBOPHILIA	PS188050	ClinVar, OMIM, HUMSAVAR
CD151	RAPH BLOOD GROUP SYSTEM	179620	OMIM
HSD11B1	CORTISONE REDUCTASE DEFICIENCY	PS604931	ClinVar, OMIM
PC	PYRUVATE CARBOXYLASE DEFICIENCY	266150	ClinVar, OMIM, HUMSAVAR
CHKB	MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE	602541	ClinVar, OMIM
CDC73	HYPERPARATHYROIDISM 1	145000	ClinVar, OMIM, HUMSAVAR
CTNS	CYSTINOSIS, ADULT NONNEPHROPATHIC	219750	OMIM, HUMSAVAR
FOXE1	THYROID CANCER, NONMEDULLARY	PS188550	ClinVar, OMIM
ITGA2B	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM, HUMSAVAR
SRD5A3	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM
ARHGAP11A	MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE	248000	ClinVar
ATP7A	OCCIPITAL HORN SYNDROME	304150	ClinVar, OMIM, HUMSAVAR
MTFMT	LEIGH SYNDROME	256000	ClinVar
NKX3-2	SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA	613330	ClinVar, OMIM
NDUFS7	LEIGH SYNDROME	256000	OMIM
GAMT	CEREBRAL CREATINE DEFICIENCY SYNDROME	PS300352	ClinVar, OMIM, HUMSAVAR
MLYCD	MALONYL-COA DECARBOXYLASE DEFICIENCY	248360	OMIM
HADH	HYPERINSULINEMIA HYPOGLYCEMIA	PS256450	ClinVar, OMIM, HUMSAVAR
NDUFA9	LEIGH SYNDROME	256000	OMIM
BAX	COLORECTAL CANCER	114500	OMIM
PSMA6	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	608446	OMIM
GH1	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II	173100	ClinVar, OMIM, HUMSAVAR
GNPTAB	MUCOLIPIDOSIS II ALPHA/BETA	252500	ClinVar, OMIM, HUMSAVAR
TARDBP	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
TGFBR1	AORTIC ANEURYSM, FAMILIAL THORACIC	PS607086	ClinVar, OMIM, HUMSAVAR
RHO	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
AKT3	MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME	PS603387	ClinVar, OMIM, HUMSAVAR
GFER	MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY	613076	ClinVar, OMIM, HUMSAVAR
APC	GASTRIC CANCER	613659	OMIM, HUMSAVAR
MITF	MELANOMA, CUTANEOUS MALIGNANT	PS155600	ClinVar, OMIM, HUMSAVAR
PDE6H	RETINAL CONE DYSTROPHY 3A	610024	ClinVar, OMIM
B4GALT7	EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES	130070	ClinVar, OMIM, HUMSAVAR
DOCK8	HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE	243700	OMIM, HUMSAVAR
MT-TI	DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL	500008	OMIM
MATN3	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED	608728	OMIM, HUMSAVAR
GMPPB	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	PS236670	ClinVar, OMIM, HUMSAVAR
CRB1	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
PHF11	IGE RESPONSIVENESS, ATOPIC	147050	OMIM
TRPV4	DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL	606835	ClinVar, OMIM, HUMSAVAR
CBS	HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY	236200	ClinVar, OMIM, HUMSAVAR
ABCA1	TANGIER DISEASE	205400	ClinVar, OMIM, HUMSAVAR
DNASE1	SYSTEMIC LUPUS ERYTHEMATOSUS	152700	OMIM
TTR	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	105210	ClinVar, OMIM, HUMSAVAR
KRAS	LUNG CANCER	211980	OMIM
OPRM1	OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1	610064	ClinVar
CEP19	MORBID OBESITY AND SPERMATOGENIC FAILURE	615703	ClinVar, OMIM
SLC24A4	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN	PS227220	ClinVar, OMIM
PIK3CD	IMMUNODEFICIENCY 14	615513	ClinVar, OMIM, HUMSAVAR
HNF1A	DIABETES MELLITUS, INSULIN-DEPENDENT	222100	ClinVar, OMIM
RNASET2	LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY	612951	OMIM, HUMSAVAR
SPINK5	IGE RESPONSIVENESS, ATOPIC	147050	OMIM
MKS1	JOUBERT SYNDROME	PS213300	ClinVar
NRL	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
SCO2	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1	604377	ClinVar, OMIM, HUMSAVAR
SLC26A2	EPIPHYSEAL DYSPLASIA, MULTIPLE	PS132400	ClinVar, OMIM, HUMSAVAR
HADHA	LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY	609016	OMIM, HUMSAVAR
COL1A1	EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT	130060	OMIM
KDR	HEMANGIOMA, CAPILLARY INFANTILE	602089	ClinVar, OMIM, HUMSAVAR
PRKCG	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
CHIC2	LEUKEMIA, ACUTE MYELOID	601626	OMIM
POMT2	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	PS236670	ClinVar, OMIM, HUMSAVAR
CALR	THROMBOCYTHEMIA	PS187950	OMIM
CRTAP	OSTEOGENESIS IMPERFECTA	PS166200	ClinVar, OMIM, HUMSAVAR
CCND1	MYELOMA, MULTIPLE	254500	OMIM
FLNC	MYOPATHY, DISTAL, 4	614065	ClinVar, OMIM, HUMSAVAR
SLC39A8	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	ClinVar, OMIM
CD3D	IMMUNODEFICIENCY 19	615617	ClinVar, OMIM
COL4A1	PORENCEPHALY	PS175780	ClinVar, OMIM, HUMSAVAR
PHYKPL	PHOSPHOHYDROXYLYSINURIA	615011	ClinVar, OMIM, HUMSAVAR
ENPP1	GENERALIZED ARTERIAL CALCIFICATION OF INFANCY	PS208000	ClinVar, OMIM, HUMSAVAR
SLC7A14	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
ZBTB16	SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION	612447	OMIM, HUMSAVAR
DSP	CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS	615821	ClinVar, OMIM, HUMSAVAR
BMPR1B	BRACHYDACTYLY, TYPE A2	112600	ClinVar, OMIM, HUMSAVAR
PCCB	PROPIONIC ACIDEMIA	606054	OMIM, HUMSAVAR
FLNB	ATELOSTEOGENESIS	PS108720	ClinVar, OMIM, HUMSAVAR
RPS26	DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS	606164	ClinVar
SLC4A1	CRYOHYDROCYTOSIS	185020	ClinVar, OMIM
ARHGEF6	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM
MYO3A	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM
SHROOM4	STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME	300434	ClinVar, OMIM, HUMSAVAR
LRP5	ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT	144750	OMIM, HUMSAVAR
LYST	CHEDIAK-HIGASHI SYNDROME	214500	ClinVar, OMIM, HUMSAVAR
FANCA	FANCONI ANEMIA	PS227650	ClinVar, OMIM, HUMSAVAR
PNPLA6	LAURENCE-MOON SYNDROME	245800	ClinVar, OMIM, HUMSAVAR
PPP2R5D	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
PEX12	PEROXISOME BIOGENESIS DISORDER	PS214100	ClinVar, OMIM, HUMSAVAR
CARD14	PSORIASIS	PS177900	ClinVar, OMIM, HUMSAVAR
SCN4A	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
WNK1	PSEUDOHYPOALDOSTERONISM, TYPE II	PS145260	OMIM
MED25	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
CEP104	JOUBERT SYNDROME	PS213300	ClinVar, OMIM
LRP6	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2	610947	ClinVar, OMIM, HUMSAVAR
GJA1	PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1	104100	ClinVar, OMIM, HUMSAVAR
FUS	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
SCN2A	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
MYH7	MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE	255160	ClinVar, OMIM, HUMSAVAR
ENPP1	HYPOPHOSPHATEMIC RICKETS	PS193100	ClinVar, OMIM, HUMSAVAR
DDHD2	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
THSD1	HYDROPS FETALIS, NONIMMUNE	236750	ClinVar
HYLS1	HYDROLETHALUS SYNDROME	PS236680	OMIM, HUMSAVAR
PRODH	HYPERPROLINEMIA, TYPE I	239500	ClinVar, OMIM, HUMSAVAR
TPM3	NEMALINE MYOPATHY	PS161800	ClinVar, OMIM, HUMSAVAR
NR1I3	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar
ABCC11	APOCRINE GLAND SECRETION, VARIATION IN	117800	ClinVar, OMIM
ATXN8OS	PARKINSON DISEASE	PS168600	ClinVar
MT-CO1	MITOCHONDRIAL COMPLEX IV DEFICIENCY	220110	HUMSAVAR
FKTN	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
A2M	ALPHA-2-MACROGLOBULIN DEFICIENCY	614036	OMIM
STT3B	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM
TMEM126A	OPTIC ATROPHY	PS165500	ClinVar, OMIM
PAX7	RHABDOMYOSARCOMA 2	268220	OMIM
ALG6	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
OPA1	OPTIC ATROPHY	PS165500	ClinVar, OMIM, HUMSAVAR
DSG2	CARDIAC ARRHYTHMIA	115000	ClinVar
NR0B1	ADRENAL HYPOPLASIA, CONGENITAL	300200	ClinVar, OMIM, HUMSAVAR
NPHP1	JOUBERT SYNDROME	PS213300	OMIM
SNRPE	HYPOTRICHOSIS	PS605389	ClinVar, OMIM, HUMSAVAR
CENPF	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
IKBKG	IMMUNODEFICIENCY 33	300636	ClinVar, OMIM, HUMSAVAR
KRT1	KERATOSIS PALMOPLANTARIS STRIATA III	607654	OMIM
PDLIM4	OSTEOPOROSIS	166710	OMIM
TP53	BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7	614740	ClinVar, OMIM
KCNV2	RETINAL CONE DYSTROPHY 3B	610356	ClinVar, OMIM, HUMSAVAR
EDNRA	MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA	616367	ClinVar, OMIM, HUMSAVAR
FUT2	VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1	612542	ClinVar, OMIM
BLVRA	HYPERBILIVERDINEMIA	614156	ClinVar, OMIM
ZBTB18	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
ARX	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
COQ2	COENZYME Q10 DEFICIENCY, PRIMARY	PS607426	ClinVar, OMIM, HUMSAVAR
GBA	GAUCHER DISEASE, TYPE IIIC	231005	ClinVar, OMIM
TBX1	TETRALOGY OF FALLOT	187500	ClinVar, OMIM
TACSTD2	CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE	204870	ClinVar, OMIM
EFEMP2	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB	614437	ClinVar, OMIM, HUMSAVAR
COMP	PSEUDOACHONDROPLASIA	177170	ClinVar, OMIM, HUMSAVAR
SETD1A	SCHIZOPHRENIA	181500	ClinVar
TNFRSF13B	IMMUNOGLOBULIN A DEFICIENCY 2	609529	ClinVar, OMIM, HUMSAVAR
B3GLCT	PETERS-PLUS SYNDROME	261540	OMIM
TSFM	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
TRMU	DEAFNESS, AMINOGLYCOSIDE-INDUCED	580000	OMIM
EIF4G1	PARKINSON DISEASE	PS168600	ClinVar, OMIM, HUMSAVAR
COL4A5	ALPORT SYNDROME, X-LINKED	301050	ClinVar, OMIM, HUMSAVAR
PDCD10	CEREBRAL CAVERNOUS MALFORMATIONS 3	603285	ClinVar, OMIM
ATRX	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME	300448	ClinVar, OMIM
SCO1	MITOCHONDRIAL COMPLEX IV DEFICIENCY	220110	OMIM, HUMSAVAR
NTF3	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
KRAS	NEVUS, EPIDERMAL	162900	ClinVar
CLDN14	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
TULP1	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
MMP14	WINCHESTER SYNDROME	277950	ClinVar, OMIM, HUMSAVAR
DCPS	AL-RAQAD SYNDROME	616459	OMIM, HUMSAVAR
COX20	MITOCHONDRIAL COMPLEX IV DEFICIENCY	220110	OMIM
HTRA1	MACULAR DEGENERATION, AGE-RELATED	PS603075	ClinVar, OMIM
CSTA	PEELING SKIN SYNDROME 4	607936	ClinVar, OMIM
TGM6	LEUKEMIA, ACUTE MYELOID	601626	ClinVar
FGF16	METACARPAL 4-5 FUSION	309630	ClinVar, OMIM, HUMSAVAR
AMHR2	PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II	261550	OMIM, HUMSAVAR
CLIC2	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
NOS2	HYPERTENSION, ESSENTIAL	145500	OMIM
CHD7	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3	608765	ClinVar
DNAJC13	PARKINSON DISEASE	PS168600	ClinVar, OMIM, HUMSAVAR
FCN3	LECTIN COMPLEMENT ACTIVATION PATHWAY DEFECTS	PS614372	OMIM
GP1BA	BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT	153670	ClinVar, OMIM, HUMSAVAR
TRPV4	PARASTREMMATIC DWARFISM	168400	OMIM, HUMSAVAR
KITLG	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN	PS227220	ClinVar, OMIM
MYH9	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM, HUMSAVAR
BCAM	LUTHERAN NULL	247420	OMIM
LDHB	LACTATE DEHYDROGENASE B DEFICIENCY	614128	ClinVar, OMIM, HUMSAVAR
GATAD1	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
NR5A1	SPERMATOGENIC FAILURE	PS258150	ClinVar, OMIM, HUMSAVAR
DYSF	MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET	606768	ClinVar, OMIM
PIGV	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME	PS239300	ClinVar, OMIM, HUMSAVAR
TRPC6	FOCAL SEGMENTAL GLOMERULOSCLEROSIS	PS603278	ClinVar, OMIM, HUMSAVAR
GLIS3	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM	610199	ClinVar, OMIM
TNFRSF1A	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	142680	ClinVar, OMIM, HUMSAVAR
SLCO2A1	HYPERTROPIC OSTEOARTHROPATHY, PRIMARY	PS259100	ClinVar, OMIM, HUMSAVAR
C19orf12	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
EIF2AK4	PULMONARY VENOOCCLUSIVE DISEASE	PS265450	ClinVar, OMIM, HUMSAVAR
HGD	ALKAPTONURIA	203500	ClinVar, OMIM, HUMSAVAR
GALNT3	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL	211900	ClinVar, OMIM
SLC25A46	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	616505	OMIM, HUMSAVAR
KLF1	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6	613566	ClinVar, OMIM
SDHA	LEIGH SYNDROME	256000	OMIM, HUMSAVAR
FGA	AFIBRINOGENEMIA, CONGENITAL	202400	OMIM, HUMSAVAR
AGK	CATARACT	PS116200	ClinVar, OMIM
MYH7	MYOPATHY, DISTAL, 1	160500	ClinVar, OMIM, HUMSAVAR
ENPP1	OBESITY	601665	OMIM
SPTLC1	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	PS162400	ClinVar, OMIM, HUMSAVAR
RPGR	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS	300455	OMIM, HUMSAVAR
TMEM67	JOUBERT SYNDROME	PS213300	ClinVar, OMIM, HUMSAVAR
NPHP3	MECKEL SYNDROME	PS249000	ClinVar, OMIM
SLC16A1	HYPERINSULINEMIA HYPOGLYCEMIA	PS256450	ClinVar, OMIM
PKLR	ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES	102900	ClinVar, OMIM, HUMSAVAR
SCNN1B	LIDDLE SYNDROME	177200	ClinVar, OMIM, HUMSAVAR
OPN1LW	COLORBLINDNESS, PARTIAL, PROTAN SERIES	303900	ClinVar, OMIM, HUMSAVAR
PTRF	LIPODYSTROPHY, CONGENITAL GENERALIZED	PS608594	ClinVar, OMIM
GATA3	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE	146255	ClinVar, OMIM, HUMSAVAR
SIX3	HOLOPROSENCEPHALY	PS236100	ClinVar, OMIM, HUMSAVAR
ACP5	SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION	607944	ClinVar, OMIM, HUMSAVAR
OCA2	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN	PS227220	ClinVar, OMIM
CFB	MACULAR DEGENERATION, AGE-RELATED	PS603075	ClinVar, OMIM
IMPAD1	CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE	614078	ClinVar, OMIM, HUMSAVAR
SCN3B	BRUGADA SYNDROME	PS601144	ClinVar, OMIM, HUMSAVAR
CD3E	IMMUNODEFICIENCY 18	615615	ClinVar, OMIM
BCL10	MESOTHELIOMA, MALIGNANT	156240	OMIM
FGF17	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
KRAS	GASTRIC CANCER	613659	HUMSAVAR
ENPP1	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM
FLT4	HEMANGIOMA, CAPILLARY INFANTILE	602089	ClinVar, OMIM, HUMSAVAR
LDLRAP1	HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	603813	ClinVar, OMIM, HUMSAVAR
COL11A1	MARSHALL SYNDROME	154780	ClinVar, OMIM
SCN10A	FAMILIAL EPISODIC PAIN SYNDROME	PS615040	ClinVar, OMIM, HUMSAVAR
MLH3	COLORECTAL CANCER	114500	OMIM
MAF	AYME-GRIPP SYNDROME	601088	ClinVar, OMIM, HUMSAVAR
IRGM	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	607948	OMIM
PI4KA	POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS	616531	ClinVar, OMIM, HUMSAVAR
COL1A1	OSTEOGENESIS IMPERFECTA	PS166200	ClinVar, OMIM, HUMSAVAR
ARID1B	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
IKBKG	INCONTINENTIA PIGMENTI	308300	ClinVar, OMIM, HUMSAVAR
RAD54B	LYMPHOMA, NON-HODGKIN, FAMILIAL	605027	ClinVar, OMIM
POMP	KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA	601952	OMIM
ALG9	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
RANBP2	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED	PS610551	ClinVar, OMIM, HUMSAVAR
IL6	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM
PSAT1	PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY	610992	ClinVar, OMIM, HUMSAVAR
DST	EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2	615425	ClinVar, OMIM
IFT172	SHORT-RIB THORACIC DYSPLASIA	PS208500	ClinVar, OMIM, HUMSAVAR
PSEN1	ALZHEIMER DISEASE	104300	ClinVar
HRAS	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME	163200	ClinVar, OMIM, HUMSAVAR
SRY	46,XY SEX REVERSAL	PS400044	ClinVar, OMIM, HUMSAVAR
ARHGAP26	JUVENILE MYELOMONOCYTIC LEUKEMIA	607785	ClinVar, OMIM, HUMSAVAR
PROM1	CONE-ROD DYSTROPHY 12	612657	ClinVar, OMIM, HUMSAVAR
JPH3	HUNTINGTON DISEASE-LIKE 2	606438	ClinVar, OMIM
IL6	ARTERIOVENOUS MALFORMATIONS OF THE BRAIN	108010	OMIM
NRAS	MELANOCYTIC NEVUS SYNDROME, CONGENITAL	137550	ClinVar, OMIM, HUMSAVAR
FKBP5	MAJOR DEPRESSIVE DISORDER	608516	OMIM
PTPRC	HEPATITIS C VIRUS, SUSCEPTIBILITY TO	609532	ClinVar, OMIM
ACADM	ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF	201450	ClinVar, OMIM, HUMSAVAR
EDNRB	WAARDENBURG SYNDROME	PS193500	ClinVar, OMIM, HUMSAVAR
TBCE	HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME	241410	ClinVar, OMIM
SYNE2	EMERY-DREIFUSS MUSCULAR DYSTROPHY	PS310300	ClinVar, OMIM, HUMSAVAR
POMGNT1	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	PS236670	ClinVar, OMIM, HUMSAVAR
WDPCP	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM
PIGA	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
INSR	HYPERINSULINEMIA HYPOGLYCEMIA	PS256450	ClinVar, OMIM, HUMSAVAR
ISCU	MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY	255125	ClinVar, OMIM
RPL15	DIAMOND-BLACKFAN ANEMIA	PS105650	OMIM
HLA-DQA1	CELIAC DISEASE	PS212750	OMIM
CLRN1	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
CD27	LYMPHOPROLIFERATIVE SYNDROME	PS308240	ClinVar, OMIM, HUMSAVAR
PAPSS2	BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES	612847	ClinVar, OMIM, HUMSAVAR
SLC13A5	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM
HPRT1	LESCH-NYHAN SYNDROME	300322	ClinVar, OMIM, HUMSAVAR
ATR	CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL	614564	ClinVar, OMIM, HUMSAVAR
RAC2	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	608203	OMIM, HUMSAVAR
GNAS	ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA	219080	ClinVar, OMIM, HUMSAVAR
TENM4	TREMOR, HEREDITARY ESSENTIAL	PS190300	ClinVar, OMIM
SLC25A26	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM
TREH	TREHALASE DEFICIENCY	612119	OMIM
GJA1	ATRIOVENTRICULAR SEPTAL DEFECT	PS606215	ClinVar, OMIM, HUMSAVAR
SLC6A8	CEREBRAL CREATINE DEFICIENCY SYNDROME	PS300352	ClinVar, OMIM, HUMSAVAR
ALDOA	GLYCOGEN STORAGE DISEASE XII	611881	ClinVar, OMIM, HUMSAVAR
PRSS23	EXUDATIVE VITREORETINOPATHY	PS133780	ClinVar
PRRX1	AGNATHIA-OTOCEPHALY COMPLEX	202650	ClinVar, OMIM, HUMSAVAR
GATA4	ATRIAL SEPTAL DEFECT	PS108800	ClinVar, OMIM, HUMSAVAR
FLCN	RENAL CELL CARCINOMA, NONPAPILLARY	144700	OMIM, HUMSAVAR
PTPN22	RHEUMATOID ARTHRITIS	180300	ClinVar, OMIM, HUMSAVAR
MTTP	ABDOMINAL OBESITY-METABOLIC SYNDROME	PS605552	OMIM
CCR2	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	ClinVar, OMIM
ACAT2	ACETYL-COA ACETYLTRANSFERASE-2 DEFICIENCY	614055	OMIM
ICAM4	BLOOD GROUP SYSTEM, LANDSTEINER-WIENER	111250	OMIM
TMEM199	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	ClinVar, OMIM, HUMSAVAR
KIAA0196	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
FGFR2	LACRIMOAURICULODENTODIGITAL SYNDROME	149730	ClinVar, OMIM, HUMSAVAR
CARD11	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY	616452	ClinVar, OMIM, HUMSAVAR
TTN	MYOPATHY, CENTRONUCLEAR	PS160150	ClinVar
TBC1D24	EPILEPSY, PROGRESSIVE MYOCLONIC	PS254800	ClinVar
NDUFS6	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM
COL11A2	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	215150	ClinVar, OMIM, HUMSAVAR
CAV1	PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME	606721	OMIM
ITGB2	LEUKOCYTE ADHESION DEFICIENCY, TYPE I	116920	ClinVar, OMIM, HUMSAVAR
CHST3	SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS	143095	ClinVar, OMIM, HUMSAVAR
DEAF1	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
CEP152	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	ClinVar, OMIM, HUMSAVAR
SDHAF1	MITOCHONDRIAL COMPLEX II DEFICIENCY	252011	OMIM, HUMSAVAR
LRSAM1	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM
STUB1	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	615768	ClinVar, OMIM, HUMSAVAR
RMRP	METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS	250460	ClinVar, OMIM
AR	SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1	313200	ClinVar, OMIM
ABCB11	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2	601847	ClinVar, OMIM, HUMSAVAR
FIG4	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
SOX18	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME	137940	ClinVar, OMIM
HSPG2	SCHWARTZ-JAMPEL SYNDROME, TYPE 1	255800	ClinVar, OMIM, HUMSAVAR
PTGER2	ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE	208550	OMIM
MYD88	MYD88 DEFICIENCY	612260	ClinVar, OMIM, HUMSAVAR
MT-TS1	DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL	500008	OMIM
ALS2	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM
CPT2	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	600649	ClinVar, OMIM, HUMSAVAR
KCNJ5	CARDIAC ARRHYTHMIA	115000	ClinVar
NUBPL	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM, HUMSAVAR
MVD	POROKERATOSIS	PS175800	OMIM, HUMSAVAR
GFAP	ALEXANDER DISEASE	203450	ClinVar, OMIM, HUMSAVAR
HMOX1	PULMONARY DISEASE, CHRONIC OBSTRUCTIVE	606963	OMIM
KCNJ11	DIABETES MELLITUS, PERMANENT NEONATAL	606176	ClinVar, OMIM, HUMSAVAR
OPA1	BEHR SYNDROME	210000	ClinVar, OMIM
TLR5	LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO	608556	ClinVar, OMIM
CPS1	PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO	615371	ClinVar, OMIM
DNM1	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
NHLRC1	EPILEPSY, PROGRESSIVE MYOCLONIC	PS254800	ClinVar, OMIM, HUMSAVAR
ALDH2	ALCOHOL SENSITIVITY, ACUTE	610251	OMIM
TNNI3	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
IRS1	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM, HUMSAVAR
AQP3	GIL BLOOD GROUP	607457	OMIM
TAP1	BARE LYMPHOCYTE SYNDROME, TYPE I	604571	ClinVar, OMIM
MLF1	LEUKEMIA, ACUTE MYELOID	601626	OMIM
ACACA	ACETYL-COA CARBOXYLASE DEFICIENCY	613933	OMIM
ALX4	PARIETAL FORAMINA 2	609597	ClinVar, OMIM, HUMSAVAR
MTOR	SMITH-KINGSMORE SYNDROME	616638	ClinVar, OMIM, HUMSAVAR
DCDC2	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
TTR	CARPAL TUNNEL SYNDROME	115430	OMIM, HUMSAVAR
DRAM2	CONE-ROD DYSTROPHY 21	616502	ClinVar, OMIM
TRPV4	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII	600175	ClinVar, OMIM, HUMSAVAR
IFT172	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
TECPR2	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
MYO1A	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar
ACHE	YT BLOOD GROUP ANTIGEN	112100	OMIM
DSPP	DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III	125500	ClinVar, OMIM, HUMSAVAR
APOA5	HYPERLIPOPROTEINEMIA, TYPE V	144650	OMIM
AARS2	LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE	615889	ClinVar, OMIM, HUMSAVAR
MFSD2A	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	OMIM, HUMSAVAR
BMPR2	PULMONARY HYPERTENSION, PRIMARY	PS178600	ClinVar, OMIM, HUMSAVAR
SNCA	PARKINSON DISEASE	PS168600	ClinVar, OMIM, HUMSAVAR
ERBB4	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
RFT1	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM, HUMSAVAR
PRPH2	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM, HUMSAVAR
RPSA	ASPLENIA, ISOLATED CONGENITAL	271400	ClinVar, OMIM, HUMSAVAR
FANCB	FANCONI ANEMIA	PS227650	ClinVar, OMIM
ATP6AP2	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM
GCKR	FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5	613463	ClinVar, OMIM
TBX5	HOLT-ORAM SYNDROME	142900	ClinVar, OMIM, HUMSAVAR
MAP2K1	CARDIOFACIOCUTANEOUS SYNDROME	PS115150	ClinVar, OMIM, HUMSAVAR
UPF3B	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
GBA	GAUCHER DISEASE, TYPE I	230800	ClinVar, OMIM, HUMSAVAR
POLA1	N SYNDROME	310465	OMIM
TTC37	TRICHOHEPATOENTERIC SYNDROME	PS222470	ClinVar, OMIM, HUMSAVAR
MESP2	SPONDYLOCOSTAL DYSOSTOSIS	PS277300	ClinVar, OMIM
STK11	PANCREATIC CANCER	260350	ClinVar, OMIM
DSP	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC	609638	ClinVar, OMIM
NPC2	NIEMANN-PICK DISEASE, TYPE C2	607625	ClinVar, OMIM, HUMSAVAR
DNAJC5	CEROID LIPOFUSCINOSES	PS256730	ClinVar, OMIM, HUMSAVAR
OPA3	OPTIC ATROPHY	PS165500	ClinVar, OMIM, HUMSAVAR
ROBO2	VESICOURETERAL REFLUX	PS193000	ClinVar, OMIM, HUMSAVAR
TBP	PARKINSON DISEASE	PS168600	ClinVar, OMIM
UTP4	NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS	604901	ClinVar, OMIM, HUMSAVAR
CCL2	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	ClinVar, OMIM
TEX15	SPERMATOGENIC FAILURE	PS258150	ClinVar
DLX3	TRICHODENTOOSSEOUS SYNDROME	190320	OMIM
COG8	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	ClinVar, OMIM
PNPT1	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
PNPLA8	MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS	251950	OMIM
MCCC2	METHYLCROTONYLGLYCINURIA	PS210200	ClinVar, OMIM, HUMSAVAR
CAPN5	VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY	193235	ClinVar, OMIM, HUMSAVAR
CFH	MACULAR DEGENERATION, AGE-RELATED	PS603075	ClinVar, OMIM, HUMSAVAR
PRKAG2	WOLFF-PARKINSON-WHITE SYNDROME	194200	OMIM, HUMSAVAR
KCNMB1	HYPERTENSION, DIASTOLIC, RESISTANCE TO	608622	OMIM
POU6F2	WILMS TUMOR	PS194070	ClinVar, OMIM, HUMSAVAR
LYZ	AMYLOIDOSIS, FAMILIAL VISCERAL	105200	OMIM, HUMSAVAR
CEP63	SECKEL SYNDROME	PS210600	ClinVar, OMIM
SPINK1	PANCREATITIS, HEREDITARY	167800	ClinVar, OMIM, HUMSAVAR
ATXN7	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM
ANTXR1	HEMANGIOMA, CAPILLARY INFANTILE	602089	OMIM
APC	HEPATOCELLULAR CARCINOMA	114550	OMIM
DIRC2	RENAL CELL CARCINOMA, NONPAPILLARY	144700	OMIM
ACKR1	BLOOD GROUP, DUFFY SYSTEM	110700	OMIM
SEC24D	COLE-CARPENTER SYNDROME	PS112240	ClinVar, OMIM, HUMSAVAR
GRM1	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13	614831	OMIM
GJB6	ECTODERMAL DYSPLASIA (SELECT EXAMPLES)	PS305100	ClinVar, OMIM, HUMSAVAR
PAX6	OPTIC NERVE HYPOPLASIA, BILATERAL	165550	OMIM, HUMSAVAR
GRIN2A	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION	245570	ClinVar, OMIM, HUMSAVAR
COL4A3	HEMATURIA, BENIGN FAMILIAL	141200	ClinVar, OMIM, HUMSAVAR
DGKE	HEMOLYTIC UREMIC SYNDROME	PS235400	ClinVar, OMIM, HUMSAVAR
MFRP	MICROPHTHALMIA, ISOLATED	PS251600	ClinVar, OMIM
HPD	TYROSINEMIA	PS276700	ClinVar, OMIM, HUMSAVAR
KDM5C	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
SEMA3D	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
LIMS2	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM
POMC	PROOPIOMELANOCORTIN DEFICIENCY	609734	ClinVar, OMIM
GDF1	TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED	PS608808	ClinVar, OMIM, HUMSAVAR
HNF1B	RENAL CELL CARCINOMA, NONPAPILLARY	144700	OMIM
MYBPC1	LETHAL CONGENITAL CONTRACTURE SYNDROME	PS253310	ClinVar, OMIM
CCL3	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	OMIM
DLX3	AMELOGENESIS IMPERFECTA	PS104500	OMIM
KIT	MAST CELL DISEASE	154800	OMIM
ALG10	LONG QT SYNDROME	PS192500	ClinVar, OMIM
IRAK3	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
G6PC	GLYCOGEN STORAGE DISEASE IA	232200	ClinVar, OMIM, HUMSAVAR
RUNX2	METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY	156510	ClinVar, OMIM
ASXL1	MYELODYSPLASTIC SYNDROME	614286	OMIM
KCNMA1	GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA	609446	ClinVar, OMIM, HUMSAVAR
MPC1	MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY	614741	ClinVar, OMIM, HUMSAVAR
ACO2	OPTIC ATROPHY	PS165500	ClinVar, OMIM, HUMSAVAR
GPC6	OMODYSPLASIA 1	258315	ClinVar, OMIM
VKORC1	COUMARIN RESISTANCE	122700	OMIM, HUMSAVAR
UROD	PORPHYRIA CUTANEA TARDA	176100	ClinVar, OMIM, HUMSAVAR
CCR5	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	ClinVar, OMIM
LAMB3	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE	226700	ClinVar, OMIM, HUMSAVAR
DAOA	SCHIZOPHRENIA	181500	OMIM
UMPS	OROTIC ACIDURIA	258900	ClinVar, OMIM, HUMSAVAR
PLA2G5	FLECK RETINA, FAMILIAL BENIGN	228980	ClinVar, OMIM, HUMSAVAR
ATF6	ACHROMATOPSIA 7	616517	ClinVar, OMIM, HUMSAVAR
FH	HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER	150800	ClinVar, OMIM, HUMSAVAR
COX15	LEIGH SYNDROME	256000	OMIM, HUMSAVAR
DISC2	SCHIZOPHRENIA	181500	OMIM
MYH8	ARTHROGRYPOSIS, DISTAL, TYPE 7	158300	ClinVar, OMIM, HUMSAVAR
COL9A3	INTERVERTEBRAL DISC DISEASE	603932	OMIM
C5orf42	OROFACIODIGITAL SYNDROME VI	277170	ClinVar, OMIM, HUMSAVAR
KARS	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
LAMC3	CORTICAL MALFORMATIONS, OCCIPITAL	614115	ClinVar, OMIM, HUMSAVAR
FLT3	LEUKEMIA, ACUTE LYMPHOBLASTIC	613065	ClinVar, OMIM
BRAF	LYMPHOMA, NON-HODGKIN, FAMILIAL	605027	ClinVar, HUMSAVAR
SLC6A19	HARTNUP DISORDER	234500	ClinVar, OMIM, HUMSAVAR
LDB3	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
NSD1	SOTOS SYNDROME	PS117550	ClinVar, OMIM, HUMSAVAR
PRPS1	DEAFNESS, X-LINKED	PS304500	ClinVar, OMIM, HUMSAVAR
IL10	RHEUMATOID ARTHRITIS	180300	OMIM
SERPING1	ANGIOEDEMA, HEREDITARY, TYPE I	106100	ClinVar, OMIM, HUMSAVAR
LTA	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	608446	OMIM
MCOLN1	MUCOLIPIDOSIS IV	252650	ClinVar, OMIM, HUMSAVAR
F13B	FACTOR XIII, B SUBUNIT, DEFICIENCY OF	613235	OMIM, HUMSAVAR
BRCA2	FANCONI ANEMIA	PS227650	ClinVar, OMIM, HUMSAVAR
COL17A1	EPITHELIAL RECURRENT EROSION DYSTROPHY	122400	ClinVar, OMIM, HUMSAVAR
TP53	PANCREATIC CANCER	260350	ClinVar, OMIM
HK1	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY	235700	ClinVar, OMIM, HUMSAVAR
TYR	OCULOCUTANEOUS ALBINISM	PS203100	ClinVar, OMIM, HUMSAVAR
SPTA1	ELLIPTOCYTOSIS 2	130600	ClinVar, OMIM, HUMSAVAR
IGFBP7	RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS	614224	OMIM
IRF3	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED	PS610551	OMIM, HUMSAVAR
SETBP1	MYELODYSPLASTIC SYNDROME	614286	HUMSAVAR
STK11	MELANOMA, CUTANEOUS MALIGNANT	PS155600	ClinVar, OMIM
UQCC2	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7	615824	ClinVar, OMIM
RPL21	HYPOTRICHOSIS	PS605389	ClinVar, OMIM, HUMSAVAR
BPGM	BISPHOSPHOGLYCERATE MUTASE DEFICIENCY	222800	ClinVar, OMIM, HUMSAVAR
IL4R	IGE RESPONSIVENESS, ATOPIC	147050	OMIM
RB1	RETINOBLASTOMA	180200	ClinVar, OMIM, HUMSAVAR
KIF1B	NEUROBLASTOMA, SUSCEPTIBILITY TO	256700	OMIM
DFNA5	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM
ATXN3	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM
OCRL	LOWE OCULOCEREBRORENAL SYNDROME	309000	ClinVar, OMIM, HUMSAVAR
RNF139	RENAL CELL CARCINOMA, NONPAPILLARY	144700	OMIM
DPP6	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
ABCB1	INFLAMMATORY BOWEL DISEASE	PS266600	OMIM
LCK	IMMUNODEFICIENCY 22	615758	ClinVar, OMIM, HUMSAVAR
PTH1R	EIKEN SYNDROME	600002	ClinVar, OMIM
CTH	CYSTATHIONINURIA	219500	ClinVar, OMIM, HUMSAVAR
AMH	PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II	261550	OMIM, HUMSAVAR
C19orf12	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION	PS234200	ClinVar, OMIM, HUMSAVAR
LMNA	MANDIBULOACRAL DYSPLASIA WITH LIPODYSTROPHY	PS248370	ClinVar, OMIM, HUMSAVAR
IL17F	FAMILIAL CANDIDIASIS	PS114580	ClinVar, OMIM, HUMSAVAR
PYGM	GLYCOGEN STORAGE DISEASE V	232600	ClinVar, OMIM, HUMSAVAR
FTO	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14	612460	OMIM
MSTN	MUSCLE HYPERTROPHY	614160	ClinVar, OMIM
IBA57	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
SGCD	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
PRX	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
TIRAP	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	607948	OMIM
TMPRSS6	IRON-REFRACTORY IRON DEFICIENCY ANEMIA	206200	ClinVar, OMIM, HUMSAVAR
SCN1B	BRUGADA SYNDROME	PS601144	ClinVar, OMIM
PRPH2	MACULAR DYSTROPHY, VITELLIFORM	PS153840	ClinVar, OMIM, HUMSAVAR
CYBA	GRANULOMATOUS DISEASE, CHRONIC	PS306400	ClinVar, OMIM, HUMSAVAR
PTPN22	DIABETES MELLITUS, INSULIN-DEPENDENT	222100	OMIM, HUMSAVAR
RARB	MICROPHTHALMIA, SYNDROMIC	PS309800	ClinVar, OMIM, HUMSAVAR
EDA	TOOTH AGENESIS, SELECTIVE	PS106600	ClinVar, OMIM, HUMSAVAR
COL5A1	MARFAN SYNDROME	154700	ClinVar
KCNJ2	ATRIAL FIBRILLATION, FAMILIAL	PS608583	ClinVar, OMIM, HUMSAVAR
MMP9	METAPHYSEAL ANADYSPLASIA 2	613073	OMIM
GNAS	PSEUDOHYPOPARATHYROIDISM, TYPE IB	603233	ClinVar, OMIM
GSS	GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO	231900	ClinVar, OMIM
PALB2	PANCREATIC CANCER, SUSCEPTIBILITY TO, 3	613348	ClinVar, OMIM
MT-RNR1	DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL	500008	OMIM
LIPE	LIPODYSTROPHY, FAMILIAL PARTIAL	PS151660	OMIM
SLC34A1	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC	PS612286	ClinVar, OMIM, HUMSAVAR
CACNB2	BRUGADA SYNDROME	PS601144	ClinVar, OMIM, HUMSAVAR
ADGRG6	LETHAL CONGENITAL CONTRACTURE SYNDROME	PS253310	ClinVar, OMIM, HUMSAVAR
IL13	ALLERGIC RHINITIS	607154	OMIM
CECR1	SNEDDON SYNDROME	182410	OMIM, HUMSAVAR
COL7A1	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE	226600	ClinVar, OMIM, HUMSAVAR
MAB21L2	MICROPHTHALMIA, SYNDROMIC	PS309800	ClinVar, OMIM, HUMSAVAR
ERCC6	MACULAR DEGENERATION, AGE-RELATED	PS603075	ClinVar, OMIM
B9D2	MECKEL SYNDROME	PS249000	ClinVar, OMIM, HUMSAVAR
HPRT1	KELLEY-SEEGMILLER SYNDROME	300323	ClinVar, OMIM, HUMSAVAR
TTC21B	NEPHRONOPHTHISIS	PS256100	ClinVar, OMIM, HUMSAVAR
MSRB3	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
MUTYH	FAMAILIAL ADENOMATOUS POLYPOSIS	PS175100	ClinVar, OMIM, HUMSAVAR
NDUFV2	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM
ABCB6	BLOOD GROUP, LANGEREIS SYSTEM	111600	OMIM
GATA6	TETRALOGY OF FALLOT	187500	ClinVar, OMIM, HUMSAVAR
RTEL1	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED	PS614742	ClinVar, OMIM, HUMSAVAR
HOXD13	SYNPOLYDACTYLY 1	186000	ClinVar, OMIM, HUMSAVAR
WNT7A	ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY	276820	ClinVar, OMIM, HUMSAVAR
NHP2	DYSKERATOSIS CONGENITA	PS127550	ClinVar, OMIM, HUMSAVAR
DSTYK	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT	PS610805	ClinVar, OMIM, HUMSAVAR
SIPA1L3	CATARACT	PS116200	ClinVar, OMIM
TRMT5	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	OMIM, HUMSAVAR
COL11A2	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
GDF3	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA	PS300345	ClinVar, OMIM, HUMSAVAR
NEFH	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM
SPTBN2	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14	615386	ClinVar, OMIM
KCNJ6	KEPPEN-LUBINSKY SYNDROME	614098	ClinVar, OMIM, HUMSAVAR
CARD14	PITYRIASIS RUBRA PILARIS	173200	ClinVar, OMIM, HUMSAVAR
PARK2	LEPROSY, SUSCEPTIBILITY TO, 2	607572	OMIM
LCAT	FISH-EYE DISEASE	136120	ClinVar, OMIM, HUMSAVAR
MMAA	METHYLMALONIC ACIDURIA, CBLA TYPE	251100	OMIM, HUMSAVAR
LMBRD1	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE	277380	OMIM
PIGC	HYDROPS FETALIS, NONIMMUNE	236750	ClinVar
GCLC	GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	230450	OMIM, HUMSAVAR
MTHFR	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE	601634	OMIM
KHDC3L	HYDATIDIFORM MOLE, RECURRENT	PS231090	ClinVar, OMIM
FIG4	YUNIS-VARON SYNDROME	216340	ClinVar, OMIM, HUMSAVAR
CCM2	CEREBRAL CAVERNOUS MALFORMATIONS 2	603284	ClinVar, OMIM, HUMSAVAR
ATP6AP2	PARKINSONISM WITH SPASTICITY, X-LINKED	300911	ClinVar, OMIM
MLLT10	LEUKEMIA, ACUTE MYELOID	601626	OMIM
ATXN8OS	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM
EGFR	SQUAMOUS CELL CARCINOMA, HEAD AND NECK	275355	ClinVar
APOL1	FOCAL SEGMENTAL GLOMERULOSCLEROSIS	PS603278	ClinVar, OMIM, HUMSAVAR
IARS2	CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA	616007	ClinVar, OMIM, HUMSAVAR
DSG1	PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE	148700	ClinVar, OMIM
IL21R	IL21R IMMUNODEFICIENCY	615207	OMIM, HUMSAVAR
FGFR3	HYPOCHONDROPLASIA	146000	ClinVar, OMIM, HUMSAVAR
IRGM	INFLAMMATORY BOWEL DISEASE	PS266600	ClinVar, OMIM
CACNA1D	PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES	615474	ClinVar, OMIM, HUMSAVAR
TEX11	SPERMATOGENIC FAILURE	PS258150	ClinVar, OMIM, HUMSAVAR
SYT2	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
C12orf65	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
AICDA	IMMUNODEFICIENCY WITH HYPER-IGM	PS308230	ClinVar, OMIM, HUMSAVAR
COPA	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE	616414	ClinVar, OMIM, HUMSAVAR
ABCB4	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3	614972	ClinVar, OMIM, HUMSAVAR
PGK1	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY	300653	ClinVar, OMIM, HUMSAVAR
CDK5RAP2	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	ClinVar, OMIM
DNA2	SECKEL SYNDROME	PS210600	OMIM
SPATA7	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM
PCDH15	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
TBP	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM
MYLK2	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
GYS2	GLYCOGEN STORAGE DISEASE 0, LIVER	240600	ClinVar, OMIM, HUMSAVAR
DAO	SCHIZOPHRENIA	181500	OMIM
PDGFRB	INFANTILE MYOFIBROMATOSIS	PS228550	ClinVar, OMIM, HUMSAVAR
NRXN1	CHROMOSOME 2P16.3 DELETION SYNDROME	614332	OMIM
SLC12A5	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14	616685	ClinVar, OMIM
MMP19	CAVITARY OPTIC DISC ANOMALIES	611543	ClinVar, OMIM
DSP	SKIN FRAGILITY-WOOLLY HAIR SYNDROME	607655	ClinVar, OMIM, HUMSAVAR
RBM10	TARP SYNDROME	311900	ClinVar, OMIM
MET	DIAPHRAGMATIC HERNIA, CONGENITAL	142340	ClinVar
MTRR	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE	601634	OMIM
JAK2	MYELOFIBROSIS	254450	OMIM
GABRA1	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13	611136	ClinVar, OMIM, HUMSAVAR
FTL	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION	PS234200	ClinVar, OMIM, HUMSAVAR
TGFB3	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	PS107970	ClinVar, OMIM
SETBP1	LEUKEMIA, CHRONIC MYELOID	608232	HUMSAVAR
SLC17A5	SALLA DISEASE	604369	ClinVar, OMIM, HUMSAVAR
NEUROG3	DIARRHEA, CONGENITAL	PS214700	ClinVar, OMIM, HUMSAVAR
SERPINI1	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	604218	ClinVar, OMIM, HUMSAVAR
FTCD	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	OMIM, HUMSAVAR
UFSP2	BEUKES HIP DYSPLASIA	142669	ClinVar, OMIM, HUMSAVAR
PIEZO2	ARTHROGRYPOSIS, DISTAL, TYPE 5	108145	ClinVar, OMIM, HUMSAVAR
IYD	THYROID DYSHORMONOGENESIS 4	274800	ClinVar, OMIM, HUMSAVAR
NOTCH1	HEART, MALFORMATION OF	234750	ClinVar
ESCO2	SC PHOCOMELIA SYNDROME	269000	OMIM
NHS	NANCE-HORAN SYNDROME	302350	ClinVar, OMIM
NPM1	LEUKEMIA, ACUTE MYELOID	601626	ClinVar, OMIM
CLUAP1	OCULOECTODERMAL SYNDROME	600268	ClinVar
PRPH	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	OMIM
IDH2	D-2-HYDROXYGLUTARIC ACIDURIA	PS600721	OMIM, HUMSAVAR
HNF1A	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM
PROK2	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
COL4A3	ALPORT SYNDROME, AUTOSOMAL RECESSIVE	203780	OMIM, HUMSAVAR
EXPH5	EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE	615028	OMIM
AKT1	PROTEUS SYNDROME	176920	OMIM, HUMSAVAR
TSC1	FOCAL CORTICAL DYSPLASIA OF TAYLOR	607341	OMIM
PAM16	SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE	613320	ClinVar, OMIM, HUMSAVAR
SH2B3	ERYTHROCYTOSIS, FAMILIAL	PS133100	ClinVar, OMIM
GJB2	ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS	602540	ClinVar, OMIM, HUMSAVAR
PIK3CA	HEPATOCELLULAR CARCINOMA	114550	ClinVar, OMIM, HUMSAVAR
PIK3CA	CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI	612918	ClinVar, OMIM, HUMSAVAR
KLLN	COWDEN DISEASE	PS158350	ClinVar, OMIM
SALL4	IVIC SYNDROME	147750	OMIM
RPGR	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
SMC1A	WIEDEMANN-STEINER SYNDROME	605130	ClinVar
AAGAB	PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA	148600	ClinVar, OMIM
TAT	TYROSINEMIA	PS276700	ClinVar, OMIM, HUMSAVAR
AIFM1	AUDITORY NEUROPATHY	PS609129	ClinVar, OMIM
MYO15A	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
F13A1	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	613225	OMIM, HUMSAVAR
IGHMBP2	SPINAL MUSCULAR ATROPHY, TYPE I	253300	ClinVar
MANBA	MANNOSIDOSIS, BETA A, LYSOSOMAL	248510	ClinVar, OMIM
SOST	HYPEROSTOSIS CORTICALIS GENERALISATA	239100	OMIM
IL6	KAPOSI SARCOMA, SUSCEPTIBILITY TO	148000	OMIM
FOLR1	NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY	613068	OMIM
KLHL41	NEMALINE MYOPATHY	PS161800	ClinVar, OMIM, HUMSAVAR
CYP11B2	CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY	203400	ClinVar, OMIM, HUMSAVAR
CLCN7	OSTEOPETROSIS, AUTOSOMAL RECESSIVE	PS259700	ClinVar, OMIM, HUMSAVAR
FANCE	FANCONI ANEMIA	PS227650	ClinVar, OMIM
THBS2	INTERVERTEBRAL DISC DISEASE	603932	OMIM
AXIN1	HEPATOCELLULAR CARCINOMA	114550	OMIM, HUMSAVAR
CTC1	CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS	612199	ClinVar, OMIM, HUMSAVAR
EDAR	ECTODERMAL DYSPLASIA (SELECT EXAMPLES)	PS305100	ClinVar, OMIM, HUMSAVAR
NLRP3	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME	PS120100	ClinVar, OMIM, HUMSAVAR
GJA5	ATRIAL STANDSTILL 1	108770	OMIM, HUMSAVAR
AGT	PREECLAMPSIA/ECLAMPSIA	PS189800	OMIM
MRAP	GLUCOCORTICOID DEFICIENCY	PS202200	ClinVar, OMIM
ATP5E	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3	614053	ClinVar, OMIM, HUMSAVAR
SLCO1B1	HYPERBILIRUBINEMIA	PS237450	ClinVar, OMIM
KCNJ8	SUDDEN INFANT DEATH SYNDROME	272120	HUMSAVAR
WISP3	ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD	208230	ClinVar, OMIM, HUMSAVAR
LDB3	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
SLC25A38	ANEMIA, SIDEROBLASTIC	PS300751	ClinVar, OMIM, HUMSAVAR
KIF5A	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
SUCLA2	MITOCHONDRIAL DNA DEPLETION SYNDROME	PS603041	ClinVar, OMIM, HUMSAVAR
TUBB3	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL	PS135700	ClinVar, OMIM, HUMSAVAR
AARS	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
FBXO7	PARKINSON DISEASE	PS168600	ClinVar, OMIM, HUMSAVAR
DRD2	DYSTONIA	PS128100	ClinVar
NYX	NIGHT BLINDNESS, CONGENITAL STATIONARY	PS310500	ClinVar, OMIM, HUMSAVAR
NDUFAF5	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM, HUMSAVAR
RET	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	209880	ClinVar, OMIM, HUMSAVAR
NLGN4X	ASPERGER SYNDROME, SUSCEPTIBILITY TO	PS608638	OMIM
GDF5	BRACHYDACTYLY, TYPE A2	112600	ClinVar, OMIM, HUMSAVAR
DNAH11	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM, HUMSAVAR
SEPN1	RIGID SPINE MUSCULAR DYSTROPHY 1	602771	ClinVar, OMIM, HUMSAVAR
CRYGC	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
TNFRSF4	IMMUNODEFICIENCY 16	615593	ClinVar, OMIM, HUMSAVAR
PPARG	OBESITY	601665	OMIM, HUMSAVAR
PRDM16	LEFT VENTRICULAR NONCOMPACTION	PS604169	ClinVar, OMIM, HUMSAVAR
RRAS2	OVARIAN CANCER	167000	OMIM
DUOX2	THYROID DYSHORMONOGENESIS 6	607200	ClinVar, OMIM, HUMSAVAR
GATA1	ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES	300835	ClinVar, OMIM
GLI3	POLYDACTYLY, POSTAXIAL, TYPE A1	174200	ClinVar, OMIM, HUMSAVAR
FKTN	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
KCNQ1OT1	BECKWITH-WIEDEMANN SYNDROME	130650	OMIM
AMN	MEGALOBLASTIC ANEMIA 1	261100	ClinVar, OMIM, HUMSAVAR
CSRP3	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
COMT	SCHIZOPHRENIA	181500	OMIM
KRT6A	PACHYONYCHIA CONGENITA	PS167200	ClinVar, OMIM, HUMSAVAR
VEGFA	MICROVASCULAR COMPLICATIONS OF DIABETES	PS603933	ClinVar, OMIM
CENPJ	SECKEL SYNDROME	PS210600	ClinVar, OMIM
SPG11	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM
PLEKHG5	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
COASY	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION	PS234200	ClinVar, OMIM, HUMSAVAR
CYBB	GRANULOMATOUS DISEASE, CHRONIC	PS306400	ClinVar, OMIM, HUMSAVAR
TNNC1	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
MKRN3	PRECOCIOUS PUBERTY, CENTRAL	PS176400	ClinVar, OMIM, HUMSAVAR
WT1	MEACHAM SYNDROME	608978	OMIM, HUMSAVAR
NEB	HYDROPS FETALIS, NONIMMUNE	236750	ClinVar
COL5A1	EHLERS-DANLOS SYNDROME, CLASSIC TYPE	130000	ClinVar, OMIM, HUMSAVAR
HNRNPDL	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT	PS159000	ClinVar, OMIM, HUMSAVAR
CASR	HYPERPARATHYROIDISM, NEONATAL SEVERE	239200	ClinVar, OMIM, HUMSAVAR
TAF15	CHONDROSARCOMA, EXTRASKELETAL MYXOID	612237	OMIM
CYBB	IMMUNODEFICIENCY 34	300645	ClinVar, OMIM, HUMSAVAR
AP2S1	HYPOCALCIURIC HYPERCALCEMIA	PS145980	ClinVar, OMIM, HUMSAVAR
KIF1BP	GOLDBERG-SHPRINTZEN SYNDROME	609460	ClinVar, OMIM
GATA4	ATRIOVENTRICULAR SEPTAL DEFECT	PS606215	ClinVar, OMIM, HUMSAVAR
SIM1	OBESITY	601665	OMIM
GNAI3	AURICULOCONDYLAR SYNDROME	PS602483	ClinVar, OMIM, HUMSAVAR
HCN4	CARDIAC ARRHYTHMIA	115000	ClinVar
RAB33B	SMITH-MCCORT DYSPLASIA	PS607326	ClinVar, OMIM, HUMSAVAR
GNAS	PSEUDOHYPOPARATHYROIDISM, TYPE IA	103580	ClinVar, OMIM, HUMSAVAR
IRAK4	IRAK4 DEFICIENCY	607676	ClinVar, OMIM, HUMSAVAR
MT-TI	HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL	500005	OMIM
APOB	HYPERCHOLESTEROLEMIA, FAMILIAL	143890	ClinVar
CD320	METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT	613646	OMIM
ELP4	ANIRIDIA	106210	ClinVar, OMIM
SPTLC2	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	PS162400	ClinVar, OMIM, HUMSAVAR
VCP	INCLUSION BODY MYOPATHY/PAGET DISEASE/FRONTOTEMPORAL DEMENTIA	PS167320	ClinVar, OMIM, HUMSAVAR
PRDM8	EPILEPSY, PROGRESSIVE MYOCLONIC	PS254800	ClinVar, OMIM, HUMSAVAR
AP1S1	MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA	609313	ClinVar, OMIM
PITX2	RING DERMOID OF CORNEA	180550	ClinVar, OMIM, HUMSAVAR
MERTK	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
GTPBP3	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
RNF212	RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1	612042	ClinVar, OMIM
VHL	VON HIPPEL-LINDAU SYNDROME	193300	ClinVar, OMIM, HUMSAVAR
DLX4	OROFACIAL CLEFT 15	616788	OMIM
RAB40AL	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, HUMSAVAR
DYX1C1	DYSLEXIA, SUSCEPTIBILITY TO, 1	127700	ClinVar, OMIM
NOG	STAPES ANKYLOSIS WITH BROAD THUMB AND TOES	184460	ClinVar, OMIM
CA2	OSTEOPETROSIS, AUTOSOMAL RECESSIVE	PS259700	ClinVar, OMIM, HUMSAVAR
MT-TL1	CYCLIC VOMITING SYNDROME	500007	OMIM
CACNA1C	LONG QT SYNDROME	PS192500	ClinVar, OMIM, HUMSAVAR
MUTYH	GASTRIC CANCER	613659	OMIM, HUMSAVAR
MRPS16	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM
STEAP3	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	PS206100	ClinVar, OMIM
IGF2BP2	DIABETES MELLITUS, NONINSULIN-DEPENDENT	125853	ClinVar, OMIM
NDN	PRADER-WILLI SYNDROME	176270	OMIM
WDR34	SHORT-RIB THORACIC DYSPLASIA	PS208500	ClinVar, OMIM, HUMSAVAR
SERPINA1	ALPHA-1-ANTITRYPSIN DEFICIENCY	613490	ClinVar, OMIM
C7	COMPLEMENT COMPONENT 7 DEFICIENCY	610102	ClinVar, OMIM, HUMSAVAR
LRP5	EXUDATIVE VITREORETINOPATHY	PS133780	OMIM, HUMSAVAR
FGFR1	OSTEOGLOPHONIC DYSPLASIA	166250	ClinVar, OMIM, HUMSAVAR
MCIDAS	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar
F2	PROTHROMBIN DEFICIENCY, CONGENITAL	613679	ClinVar, OMIM, HUMSAVAR
OTX2	PITUITARY HORMONE DEFICIENCY, COMBINED	PS613038	ClinVar, OMIM, HUMSAVAR
MYOC	GLAUCOMA 3, PRIMARY CONGENITAL, A	231300	HUMSAVAR
SNAI2	PIEBALD TRAIT	172800	OMIM
AVP	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL	125700	ClinVar, OMIM, HUMSAVAR
PHYH	REFSUM DISEASE, CLASSIC	266500	OMIM, HUMSAVAR
CEBPE	SPECIFIC GRANULE DEFICIENCY	245480	OMIM
TTBK2	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM
IL12B	IMMUNODEFICIENCY 29	614890	ClinVar, OMIM
RASGRP2	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM, HUMSAVAR
NPPA	ATRIAL FIBRILLATION, FAMILIAL	PS608583	ClinVar, OMIM
PAK3	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
KCNK18	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13	613656	OMIM
FANCL	FANCONI ANEMIA	PS227650	ClinVar, OMIM
CORO1A	IMMUNODEFICIENCY 8	615401	ClinVar, OMIM, HUMSAVAR
AMT	GLYCINE ENCEPHALOPATHY	605899	ClinVar, OMIM, HUMSAVAR
SGO1	CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA	616201	ClinVar, OMIM, HUMSAVAR
SEPSECS	PONTOCEREBELLAR HYPOPLASIA	PS607596	ClinVar, OMIM, HUMSAVAR
KCNJ2	LONG QT SYNDROME	PS192500	ClinVar, OMIM, HUMSAVAR
MYO6	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	ClinVar, OMIM, HUMSAVAR
ABAT	GABA-TRANSAMINASE DEFICIENCY	613163	OMIM, HUMSAVAR
MYD88	MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1	153600	OMIM
PAX5	LEUKEMIA, ACUTE LYMPHOBLASTIC	613065	HUMSAVAR
MYH2	MYOPATHY, PROXIMAL, AND OPHTHALMOPLEGIA	605637	ClinVar, OMIM, HUMSAVAR
POLE	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12	615083	ClinVar, OMIM, HUMSAVAR
LIPA	LYSOSOMAL ACID LIPASE DEFICIENCY	278000	ClinVar, OMIM, HUMSAVAR
TUBB	SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL	PS156610	ClinVar, OMIM
B3GALT6	EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2	615349	ClinVar, OMIM, HUMSAVAR
GBA	DEMENTIA, LEWY BODY	127750	OMIM
SMC3	CORNELIA DE LANGE SYNDROME	PS122470	ClinVar, OMIM
BOLA3	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME	PS605711	ClinVar, OMIM
AP4E1	STUTTERING, FAMILIAL PERSISTENT	PS184450	ClinVar, OMIM
FGFR3	ACHONDROPLASIA	100800	ClinVar, OMIM, HUMSAVAR
LCA5	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM
DNAL4	MIRROR MOVEMENTS	PS157600	ClinVar, OMIM
SATB2	GLASS SYNDROME	612313	ClinVar, OMIM
PIP5K1C	LETHAL CONGENITAL CONTRACTURE SYNDROME	PS253310	ClinVar, OMIM, HUMSAVAR
MCM9	PREMATURE OVARIAN FAILURE 1	311360	ClinVar
OXCT1	SUCCINYL-COA:3-OXOACID-COA TRANSFERASE DEFICIENCY	245050	ClinVar, OMIM, HUMSAVAR
PIKFYVE	CORNEAL DYSTROPHY, FLECK	121850	ClinVar, OMIM, HUMSAVAR
WT1	DENYS-DRASH SYNDROME	194080	ClinVar, OMIM, HUMSAVAR
BEST1	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	611809	ClinVar, OMIM, HUMSAVAR
CRBN	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM
ADGRG1	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE	615752	OMIM
PRKACG	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM, HUMSAVAR
LMNA	HEART-HAND SYNDROME, SLOVENIAN TYPE	610140	OMIM
RTN4R	SCHIZOPHRENIA	181500	OMIM
ARHGEF10	SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT	608236	ClinVar, OMIM, HUMSAVAR
ATXN1	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM
ATP6V0A2	WRINKLY SKIN SYNDROME	278250	ClinVar, OMIM
PHGDH	NEU-LAXOVA SYNDROME	PS256520	ClinVar, OMIM, HUMSAVAR
AMACR	BILE ACID SYNTHESIS DEFECT, CONGENITAL	PS607765	ClinVar, OMIM, HUMSAVAR
FFAR4	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10	607514	ClinVar, OMIM
IGF1R	INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO	270450	ClinVar, OMIM, HUMSAVAR
CFTR	BRONCHIECTASIS	PS211400	ClinVar, OMIM
OCRL	DENT DISEASE	PS300009	OMIM, HUMSAVAR
DDR2	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	271665	ClinVar, OMIM, HUMSAVAR
WNT4	46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS	611812	ClinVar, OMIM, HUMSAVAR
KRT18	HEPATITIS C VIRUS, SUSCEPTIBILITY TO	609532	ClinVar
MYPN	FAMILIAL RESTRICTIVE CARDIOMYOPATHY	PS115210	ClinVar, OMIM, HUMSAVAR
LTBP2	EXFOLIATION SYNDROME	177650	ClinVar
BMP2	BRACHYDACTYLY, TYPE A2	112600	ClinVar, OMIM
ITCH	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM	613385	ClinVar, OMIM
FSCN2	RETINITIS PIGMENTOSA	PS268000	OMIM
SLC20A2	BASAL GANGLIA CALCIFICATION, IDIOPATHIC	PS213600	ClinVar, OMIM, HUMSAVAR
PCK2	PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL	261650	OMIM
GLIS2	NEPHRONOPHTHISIS	PS256100	ClinVar, OMIM
HABP2	THYROID CANCER, NONMEDULLARY	PS188550	OMIM, HUMSAVAR
ACOX1	PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY	264470	OMIM, HUMSAVAR
ZAK	SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY	616890	ClinVar, OMIM
PTCH1	HOLOPROSENCEPHALY	PS236100	ClinVar, OMIM, HUMSAVAR
GNAI2	PITUITARY ADENOMA, ACTH-SECRETING	219090	ClinVar
HBB	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE	603902	ClinVar, OMIM
NRG1	SCHIZOPHRENIA 6	603013	OMIM
MLH3	ENDOMETRIAL CANCER	608089	OMIM
OSTM1	OSTEOPETROSIS, AUTOSOMAL RECESSIVE	PS259700	ClinVar, OMIM
GATA4	TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE	615542	ClinVar, OMIM, HUMSAVAR
OPN1MW	COLORBLINDNESS, PARTIAL, DEUTAN SERIES	303800	ClinVar, OMIM, HUMSAVAR
SMARCB1	SCHWANNOMATOSIS	PS162091	OMIM
MYBPC3	LEFT VENTRICULAR NONCOMPACTION	PS604169	ClinVar, OMIM, HUMSAVAR
HLA-C	PSORIASIS	PS177900	ClinVar, OMIM
COX7B	LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES	PS309801	ClinVar, OMIM
EYA4	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
KRT4	WHITE SPONGE NEVUS	PS193900	ClinVar, OMIM, HUMSAVAR
TRAF3IP1	SENIOR-LOKEN SYNDROME 9	616629	OMIM, HUMSAVAR
SLC33A1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
GDF2	TELANGIECTASIA, HEREDITARY HEMORRHAGIC	PS187300	ClinVar, OMIM, HUMSAVAR
IDH2	GLIOMA	PS137800	HUMSAVAR
GLB1	GM1-GANGLIOSIDOSIS, TYPE II	230600	ClinVar, OMIM, HUMSAVAR
PORCN	FOCAL DERMAL HYPOPLASIA	305600	ClinVar, OMIM, HUMSAVAR
BAX	LEUKEMIA, ACUTE LYMPHOBLASTIC	613065	OMIM
KIF7	BARDET-BIEDL SYNDROME	PS209900	HUMSAVAR
GABRG2	EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS	PS604233	ClinVar, OMIM, HUMSAVAR
BARD1	BREAST CANCER	114480	OMIM
COX8A	MITOCHONDRIAL COMPLEX IV DEFICIENCY	220110	OMIM
KRT75	PSEUDOFOLLICULITIS BARBAE	612318	OMIM
TMEM165	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	ClinVar, OMIM, HUMSAVAR
STXBP2	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5	613101	ClinVar, OMIM, HUMSAVAR
SRP72	BONE MARROW FAILURE SYNDROME 1	614675	ClinVar, OMIM, HUMSAVAR
SCN1A	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
HMBS	PORPHYRIA, ACUTE INTERMITTENT	176000	ClinVar, OMIM, HUMSAVAR
NARS2	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
DHTKD1	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA	204750	ClinVar, OMIM, HUMSAVAR
KRT1	EPIDERMOLYTIC HYPERKERATOSIS	113800	ClinVar, OMIM, HUMSAVAR
CDKL5	ANGELMAN SYNDROME	105830	ClinVar
ELOVL4	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
PDCD1	MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO	PS126200	OMIM
SALL4	DUANE-RADIAL RAY SYNDROME	607323	ClinVar, OMIM, HUMSAVAR
TLE6	PREIMPLANTATION EMBRYONIC LETHALITY	616814	ClinVar, OMIM
CPA6	EPILEPSY, FAMILIAL TEMPORAL LOBE	PS600512	ClinVar, OMIM, HUMSAVAR
ABCA4	MACULAR DEGENERATION, AGE-RELATED	PS603075	ClinVar, OMIM, HUMSAVAR
PRSS1	TRYPSINOGEN DEFICIENCY	614044	OMIM
PROM1	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM
TBC1D20	WARBURG MICRO SYNDROME	PS600118	ClinVar, OMIM
ABCB1	COLCHICINE RESISTANCE	120080	OMIM
MT-TS1	MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS	545000	OMIM
GDF6	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM, HUMSAVAR
A4GALT	BLOOD GROUP, P1PK SYSTEM	111400	OMIM
TRPV3	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2	616400	ClinVar, OMIM, HUMSAVAR
TAPT1	OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE	616897	ClinVar, OMIM
SEMA3A	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	PS147950	ClinVar, OMIM, HUMSAVAR
ETFB	MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY	231680	OMIM, HUMSAVAR
TTN	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
RTEL1	DYSKERATOSIS CONGENITA	PS127550	ClinVar, OMIM, HUMSAVAR
KLHL10	SPERMATOGENIC FAILURE	PS258150	ClinVar, OMIM, HUMSAVAR
TTC21B	SHORT-RIB THORACIC DYSPLASIA	PS208500	ClinVar, OMIM, HUMSAVAR
LITAF	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
HNF4A	FANCONI RENOTUBULAR SYNDROME	PS134600	ClinVar, OMIM, HUMSAVAR
PAX5	LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3	615545	ClinVar, OMIM
SCN5A	ATRIAL STANDSTILL 1	108770	HUMSAVAR
LTA	PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO	607507	OMIM
HPSE2	UROFACIAL SYNDROME	PS236730	ClinVar, OMIM
HTR2A	ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1	606788	OMIM
SLC25A1	COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA	615182	ClinVar, OMIM, HUMSAVAR
GALK1	GALACTOKINASE DEFICIENCY	230200	ClinVar, OMIM, HUMSAVAR
SFXN4	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM
MYH11	AORTIC ANEURYSM, FAMILIAL THORACIC	PS607086	ClinVar, OMIM, HUMSAVAR
FLNA	OTOPALATODIGITAL SYNDROME, TYPE II	304120	ClinVar, OMIM, HUMSAVAR
ETV6	LEUKEMIA, ACUTE MYELOID	601626	ClinVar, OMIM
BRAF	LUNG CANCER	211980	OMIM, HUMSAVAR
FLNA	FG SYNDROME 2	300321	ClinVar, OMIM, HUMSAVAR
DNAI1	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM, HUMSAVAR
SLC2A1	DYSTONIA	PS128100	ClinVar, OMIM, HUMSAVAR
TRAF3IP2	PSORIASIS	PS177900	ClinVar, OMIM, HUMSAVAR
RNU4ATAC	MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I	210710	ClinVar, OMIM
HGSNAT	MUCOPOLYSACCHARIDOSES	PS607014	ClinVar, OMIM, HUMSAVAR
KRT25	WOOLLY HAIR, AUTOSOMAL RECESSIVE 3	616760	ClinVar, OMIM
PIK3CA	LUNG CANCER	211980	OMIM
SLC45A2	OCULOCUTANEOUS ALBINISM	PS203100	ClinVar, OMIM, HUMSAVAR
PSEN1	ALZHEIMER DISEASE 3	607822	ClinVar, OMIM, HUMSAVAR
SMARCA4	COFFIN-SIRIS SYNDROME	PS135900	ClinVar, OMIM, HUMSAVAR
TSR2	DIAMOND-BLACKFAN ANEMIA	PS105650	ClinVar, OMIM, HUMSAVAR
RAG1	OMENN SYNDROME	603554	OMIM, HUMSAVAR
UQCRB	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3	615158	OMIM
GYPA	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
AIPL1	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM, HUMSAVAR
TFR2	HEMOCHROMATOSIS	PS235200	ClinVar, OMIM, HUMSAVAR
TTI2	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM, HUMSAVAR
CHMP4B	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
PCYT1A	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY	608940	ClinVar, OMIM, HUMSAVAR
TMCO1	CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME	213980	ClinVar, OMIM
GUCY2D	CONE-ROD DYSTROPHY 6	601777	ClinVar, OMIM, HUMSAVAR
UNC45B	CATARACT	PS116200	ClinVar, OMIM, HUMSAVAR
KIF7	HYDROLETHALUS SYNDROME	PS236680	OMIM, HUMSAVAR
SIL1	MARINESCO-SJOGREN SYNDROME	248800	ClinVar, OMIM
MYOT	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT	PS159000	ClinVar, OMIM, HUMSAVAR
UVSSA	UV-SENSITIVE SYNDROME	PS600630	ClinVar, OMIM, HUMSAVAR
GNE	NONAKA MYOPATHY	605820	ClinVar, OMIM, HUMSAVAR
TSEN34	PONTOCEREBELLAR HYPOPLASIA	PS607596	ClinVar, OMIM, HUMSAVAR
GLRA1	HYPEREKPLEXIA, HEREDITARY 1	149400	ClinVar, OMIM, HUMSAVAR
B2M	IMMUNODEFICIENCY 43	241600	ClinVar, OMIM, HUMSAVAR
PSAP	GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY	610539	OMIM, HUMSAVAR
SGCD	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	PS253600	ClinVar, OMIM, HUMSAVAR
EXOC8	JOUBERT SYNDROME	PS213300	ClinVar
MT-CO3	LEBER OPTIC ATROPHY	535000	HUMSAVAR
PROM1	STARGARDT DISEASE 4	603786	ClinVar, OMIM, HUMSAVAR
GRID2	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18	616204	OMIM, HUMSAVAR
EPB41	ELLIPTOCYTOSIS 1	611804	ClinVar, OMIM
EDN1	QUESTION MARK EARS, ISOLATED	612798	ClinVar, OMIM, HUMSAVAR
PPP2R2B	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM
CBL	JUVENILE MYELOMONOCYTIC LEUKEMIA	607785	ClinVar
CENPJ	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	ClinVar, OMIM, HUMSAVAR
PIK3R2	MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME	PS603387	ClinVar, OMIM, HUMSAVAR
PLP1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
TNFRSF10B	SQUAMOUS CELL CARCINOMA, HEAD AND NECK	275355	OMIM
TNFSF4	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	608446	OMIM
LRAT	LEBER CONGENITAL AMAUROSIS	PS204000	OMIM, HUMSAVAR
SP110	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	607948	OMIM
ABCC6	PSEUDOXANTHOMA ELASTICUM	264800	ClinVar, OMIM, HUMSAVAR
PHF11	ASTHMA, SUSCEPTIBILITY TO	600807	OMIM
CLCN2	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11	607628	ClinVar, OMIM, HUMSAVAR
CACNA1A	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	141500	ClinVar, OMIM, HUMSAVAR
PCSK9	HYPERCHOLESTEROLEMIA, FAMILIAL	143890	ClinVar
SOX2	MICROPHTHALMIA, SYNDROMIC	PS309800	ClinVar, OMIM
FAM126A	LEUKODYSTROPHY, HYPOMYELINATING	PS312080	ClinVar, OMIM, HUMSAVAR
SDHD	PHEOCHROMOCYTOMA	171300	OMIM, HUMSAVAR
ALG2	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I	PS212065	ClinVar, OMIM
IGHMBP2	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1	604320	ClinVar, OMIM, HUMSAVAR
NSDHL	CK SYNDROME	300831	ClinVar, OMIM
GATA1	THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA	300367	ClinVar, OMIM, HUMSAVAR
TRPV4	SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE	184095	ClinVar, OMIM
MSH2	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS	PS120435	ClinVar, OMIM, HUMSAVAR
IFT140	SHORT-RIB THORACIC DYSPLASIA	PS208500	ClinVar, OMIM, HUMSAVAR
CDH1	OVARIAN CANCER	167000	OMIM
FGD1	MENTAL RETARDATION, X-LINKED SYNDROMIC	PS309510	ClinVar, OMIM, HUMSAVAR
TXN2	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM
LAMB2	NEPHROTIC SYNDROME	PS256300	ClinVar, OMIM, HUMSAVAR
TNNT2	LEFT VENTRICULAR NONCOMPACTION	PS604169	ClinVar, OMIM, HUMSAVAR
SLC26A2	ACHONDROGENESIS	PS200600	ClinVar, OMIM, HUMSAVAR
SLC6A14	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11	300306	OMIM
ERCC6	LUNG CANCER	211980	OMIM
KCNJ1	BARTTER SYNDROME	PS601678	OMIM, HUMSAVAR
ABCA4	CONE-ROD DYSTROPHY 3	604116	ClinVar, OMIM, HUMSAVAR
COX10	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar
SEMA7A	BLOOD GROUP, JOHN MILTON HAGEN SYSTEM	614745	OMIM
CACNA2D4	RETINAL CONE DYSTROPHY 4	610478	ClinVar, OMIM
COL2A1	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE	184250	ClinVar, OMIM, HUMSAVAR
BTD	BIOTINIDASE DEFICIENCY	253260	OMIM, HUMSAVAR
GJB2	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT	148210	OMIM, HUMSAVAR
WAC	DESANTO-SHINAWI SYNDROME	616708	ClinVar, OMIM
KRT1	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC	144200	ClinVar, OMIM
FBXL4	MITOCHONDRIAL DNA DEPLETION SYNDROME	PS603041	ClinVar, OMIM, HUMSAVAR
MED12	OHDO SYNDROME, X-LINKED	300895	ClinVar, OMIM, HUMSAVAR
FTSJ1	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM
ECE1	HYPERTENSION, ESSENTIAL	145500	OMIM
CNNM4	JALILI SYNDROME	217080	ClinVar, OMIM, HUMSAVAR
TFG	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE	604484	ClinVar, OMIM, HUMSAVAR
SDHA	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
RPGR	CONE-ROD DYSTROPHY, X-LINKED, 1	304020	ClinVar, OMIM
LRBA	IMMUNODEFICIENCY, COMMON VARIABLE	PS607594	ClinVar, OMIM, HUMSAVAR
ALPL	HYPOPHOSPHATASIA, ADULT	146300	ClinVar, OMIM, HUMSAVAR
MFAP5	AORTIC ANEURYSM, FAMILIAL THORACIC	PS607086	ClinVar, OMIM, HUMSAVAR
COL7A1	NAIL DISORDER, NONSYNDROMIC CONGENITAL	PS161050	ClinVar, OMIM, HUMSAVAR
CLPB	3-METHYLGLUTACONIC ACIDURIA	PS250950	ClinVar, OMIM, HUMSAVAR
NKX2-5	VENTRICULAR SEPTAL DEFECT	PS614429	ClinVar, OMIM, HUMSAVAR
KRT3	CORNEAL DYSTROPHY, MEESMANN	122100	ClinVar, OMIM, HUMSAVAR
GCLC	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	608446	OMIM
GNAS	PITUITARY ADENOMA, ACTH-SECRETING	219090	ClinVar
RPL26	DIAMOND-BLACKFAN ANEMIA	PS105650	OMIM
H19	SILVER-RUSSELL SYNDROME	180860	OMIM
FBN1	WEILL-MARCHESANI SYNDROME	PS277600	OMIM
AASS	HYPERLYSINEMIA, TYPE I	238700	ClinVar, OMIM
KIR3DL1	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	609423	OMIM
GJA1	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	133200	ClinVar, OMIM, HUMSAVAR
CHRNA4	EPILEPSY, NOCTURNAL FRONTAL LOBE	PS600513	ClinVar, OMIM, HUMSAVAR
MBD5	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
B4GALNT1	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
CDKN2A	LI-FRAUMENI SYNDROME	PS151623	HUMSAVAR
TLR2	COLORECTAL CANCER	114500	OMIM
KLK1	KALLIKREIN, DECREASED URINARY ACTIVITY OF	615953	OMIM
SCRIB	NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO	182940	HUMSAVAR
PSEN2	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM
KCNA5	ATRIAL FIBRILLATION, FAMILIAL	PS608583	ClinVar, OMIM
TAS2R38	THIOUREA TASTING	171200	OMIM
ZFPM2	DIAPHRAGMATIC HERNIA 3	610187	ClinVar, OMIM
SPG11	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
RPS24	DIAMOND-BLACKFAN ANEMIA	PS105650	ClinVar, OMIM
GJB4	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	133200	ClinVar, OMIM, HUMSAVAR
NEUROD1	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6	606394	ClinVar, OMIM, HUMSAVAR
HPS5	HERMANSKY-PUDLAK SYNDROME	PS203300	ClinVar, OMIM, HUMSAVAR
COL5A2	MARFAN SYNDROME	154700	ClinVar
WDR72	AMELOGENESIS IMPERFECTA	PS104500	ClinVar, OMIM
FGFR3	NEVUS, EPIDERMAL	162900	ClinVar, OMIM, HUMSAVAR
ZFYVE27	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM, HUMSAVAR
KAT6A	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM
AFG3L2	SPINOCEREBELLAR ATAXIA	PS164400	ClinVar, OMIM, HUMSAVAR
KRT14	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED	131800	ClinVar, OMIM, HUMSAVAR
ARNT2	WEBB-DATTANI SYNDROME	615926	OMIM
NLRP3	MUCKLE-WELLS SYNDROME	191900	ClinVar, OMIM, HUMSAVAR
ATP2B2	DEAFNESS, AUTOSOMAL RECESSIVE	PS220290	OMIM
BRAT1	RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL	614498	ClinVar, OMIM
GDF3	KLIPPEL-FEIL SYNDROME	PS118100	ClinVar, OMIM, HUMSAVAR
P3H1	OSTEOGENESIS IMPERFECTA	PS166200	ClinVar, OMIM
JPH1	CHARCOT-MARIE-TOOTH DISEASE	PS118220	OMIM
ATP6V1B2	ZIMMERMANN-LABAND SYNDROME	PS135500	ClinVar, OMIM, HUMSAVAR
IL1RAPL1	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM
SLC19A2	THIAMINE-RESPONSIVE DYSFUNCTION SYNDROME	PS249270	ClinVar, OMIM, HUMSAVAR
ATP5A1	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
CFAP57	VAN DER WOUDE SYNDROME 2	606713	ClinVar
SUOX	SULFOCYSTEINURIA	272300	OMIM, HUMSAVAR
KLF11	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7	610508	ClinVar, OMIM, HUMSAVAR
RNASEH1	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MTDNA DELETIONS	PS157640	OMIM, HUMSAVAR
PHEX	HYPOPHOSPHATEMIC RICKETS	PS193100	ClinVar, OMIM, HUMSAVAR
CD44	BLOOD GROUP, INDIAN SYSTEM	609027	OMIM
MYH7	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	603829	ClinVar
ITGA7	MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY	613204	ClinVar, OMIM
NOD2	PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO	607507	OMIM
FGFR3	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	610474	OMIM, HUMSAVAR
TG	THYROID DYSHORMONOGENESIS 3	274700	ClinVar, OMIM, HUMSAVAR
GSS	GLUTATHIONE SYNTHETASE DEFICIENCY	266130	ClinVar, OMIM, HUMSAVAR
SOX3	MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM	300123	OMIM
TRPM4	PROGRESSIVE FAMILIAL HEART BLOCK	PS113900	ClinVar, OMIM, HUMSAVAR
COA6	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 4	616501	ClinVar, OMIM, HUMSAVAR
MTM1	MYOPATHY, CENTRONUCLEAR, X-LINKED	310400	ClinVar, OMIM, HUMSAVAR
TSC2	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
MAK	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
LMAN2L	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM
RPGRIP1	LEBER CONGENITAL AMAUROSIS	PS204000	ClinVar, OMIM, HUMSAVAR
SMAD4	MYHRE SYNDROME	139210	ClinVar, OMIM, HUMSAVAR
P2RY12	BLEEDING DISORDER, PLATELET-TYPE	PS231200	ClinVar, OMIM, HUMSAVAR
NDUFB9	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM
CNTN1	MYOPATHY, CONGENITAL, COMPTON-NORTH	612540	ClinVar, OMIM
MITF	TIETZ SYNDROME	103500	OMIM, HUMSAVAR
RNF113A	TRICHOTHIODYSTROPHY	PS601675	ClinVar, OMIM
PCNA	ATAXIA-TELANGIECTASIA-LIKE DISORDER	PS604391	ClinVar, OMIM, HUMSAVAR
A2M	ALZHEIMER DISEASE	104300	OMIM
RNASEL	PROSTATE CANCER, HEREDITARY, 1	601518	ClinVar, OMIM
FOXC1	AXENFELD-RIEGER SYNDROME, TYPE 3	602482	ClinVar, OMIM, HUMSAVAR
MSMO1	MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS	616834	ClinVar, OMIM
GFM1	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
THBD	HEMOLYTIC UREMIC SYNDROME	PS235400	ClinVar, OMIM, HUMSAVAR
ALDH18A1	CUTIS LAXA, AUTOSOMAL DOMINANT 3	616603	ClinVar, OMIM
CAV3	SUDDEN INFANT DEATH SYNDROME	272120	HUMSAVAR
MYH7	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	255310	ClinVar
PTPN22	SYSTEMIC LUPUS ERYTHEMATOSUS	152700	OMIM, HUMSAVAR
HERC2	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM, HUMSAVAR
FKTN	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	PS236670	ClinVar, OMIM, HUMSAVAR
ENO3	GLYCOGEN STORAGE DISEASE XIII	612932	ClinVar, OMIM, HUMSAVAR
STOX1	PREECLAMPSIA/ECLAMPSIA	PS189800	ClinVar, OMIM, HUMSAVAR
FGD4	CHARCOT-MARIE-TOOTH DISEASE	PS118220	ClinVar, OMIM, HUMSAVAR
ALK	NEUROBLASTOMA, SUSCEPTIBILITY TO, 3	613014	ClinVar, OMIM, HUMSAVAR
GNMT	GLYCINE N-METHYLTRANSFERASE DEFICIENCY	606664	OMIM, HUMSAVAR
ADAMTSL2	GELEOPHYSIC DYSPLASIA	PS231050	ClinVar, OMIM, HUMSAVAR
DCC	COLORECTAL CANCER	114500	OMIM
TYR	MELANOMA, CUTANEOUS MALIGNANT	PS155600	ClinVar
ZFHX4	PTOSIS, HEREDITARY CONGENITAL 1	178300	OMIM
CPT2	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL	608836	ClinVar, OMIM
GFPT1	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar, OMIM, HUMSAVAR
HOXA13	PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS	176305	OMIM, HUMSAVAR
CFHR3	MACULAR DEGENERATION, AGE-RELATED	PS603075	OMIM
TACO1	MYASTHENIC SYNDROME, CONGENITAL	PS601462	ClinVar
DLC1	COLORECTAL CANCER	114500	OMIM
SI	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL	222900	ClinVar, OMIM, HUMSAVAR
RRM2B	MITOCHONDRIAL DNA DEPLETION SYNDROME	PS603041	ClinVar, OMIM, HUMSAVAR
EMD	EMERY-DREIFUSS MUSCULAR DYSTROPHY	PS310300	ClinVar, OMIM, HUMSAVAR
RBP4	RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME	615147	ClinVar, OMIM, HUMSAVAR
NR2E3	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM, HUMSAVAR
RAF1	LEOPARD SYNDROME	PS151100	ClinVar, OMIM, HUMSAVAR
MCCC1	METHYLCROTONYLGLYCINURIA	PS210200	ClinVar, OMIM, HUMSAVAR
AGPS	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA	PS215100	ClinVar, OMIM, HUMSAVAR
PHKA2	GLYCOGEN STORAGE DISEASE IXA1	306000	ClinVar, OMIM, HUMSAVAR
ACVRL1	TELANGIECTASIA, HEREDITARY HEMORRHAGIC	PS187300	ClinVar, OMIM, HUMSAVAR
KAT5	COLORECTAL CANCER	114500	ClinVar
PHC1	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	ClinVar, OMIM, HUMSAVAR
NPHS2	NEPHROTIC SYNDROME	PS256300	ClinVar, OMIM, HUMSAVAR
GABRB3	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5	612269	ClinVar, OMIM, HUMSAVAR
GAA	GLYCOGEN STORAGE DISEASE II	232300	ClinVar, OMIM, HUMSAVAR
KIF1BP	SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME	182212	ClinVar
RGS9BP	PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION	608415	OMIM
POLR1C	TREACHER COLLINS SYNDROME	PS154500	ClinVar, OMIM, HUMSAVAR
TSHR	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS	PS275200	ClinVar, OMIM, HUMSAVAR
STRADA	POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY	611087	OMIM
KRAS	GASTRIC CANCER, HEREDITARY DIFFUSE	137215	OMIM
PGAP1	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	ClinVar, OMIM
VKORC1	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF	PS277450	ClinVar, OMIM, HUMSAVAR
SHOX	LANGER MESOMELIC DYSPLASIA	249700	ClinVar, OMIM, HUMSAVAR
FARS2	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	PS609060	ClinVar, OMIM, HUMSAVAR
TIMM8A	MOHR-TRANEBJAERG SYNDROME	304700	ClinVar, OMIM, HUMSAVAR
PTRH2	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET	616263	ClinVar, OMIM, HUMSAVAR
MXI1	PROSTATE CANCER	176807	OMIM, HUMSAVAR
SYNGAP1	MENTAL RETARDATION, AUTOSOMAL DOMINANT	PS156200	ClinVar, OMIM, HUMSAVAR
PDGFRA	GASTROINTESTINAL STROMAL TUMOR	606764	ClinVar, OMIM, HUMSAVAR
TPM1	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	PS604772	ClinVar
TDRD7	CATARACT	PS116200	OMIM
EYA4	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM
SMC1A	CORNELIA DE LANGE SYNDROME	PS122470	ClinVar, OMIM, HUMSAVAR
SH3BP2	CHERUBISM	118400	ClinVar, OMIM, HUMSAVAR
NOBOX	PREMATURE OVARIAN FAILURE 5	611548	ClinVar, OMIM, HUMSAVAR
CASC5	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE	PS251200	ClinVar, OMIM, HUMSAVAR
FGG	DYSFIBRINOGENEMIA, CONGENITAL	616004	OMIM, HUMSAVAR
MSX1	ECTODERMAL DYSPLASIA (SELECT EXAMPLES)	PS305100	ClinVar, OMIM
PDGFRL	HEPATOCELLULAR CARCINOMA	114550	OMIM
TNF	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1	157300	OMIM
JPH2	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	603829	ClinVar
FGFR4	PROSTATE CANCER	176807	HUMSAVAR
MT-RNR2	CHLORAMPHENICOL TOXICITY	515000	OMIM
HPD	HAWKINSINURIA	140350	OMIM
MATN3	OSTEOARTHRITIS SUSCEPTIBILITY 2	140600	ClinVar, OMIM
PRRT2	CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS	602066	ClinVar, OMIM, HUMSAVAR
CC2D1A	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	PS249500	OMIM
APOL4	SCHIZOPHRENIA	181500	OMIM
PTPN14	CHOANAL ATRESIA AND LYMPHEDEMA	613611	OMIM
ZFYVE26	SPASTIC PARAPLEGIA	PS303350	ClinVar, OMIM
SCGB1A1	ASTHMA, SUSCEPTIBILITY TO	600807	ClinVar
TP63	ADULT SYNDROME	103285	OMIM, HUMSAVAR
FBN1	MARFAN LIPODYSTROPHY SYNDROME	616914	ClinVar, OMIM
ERCC4	FANCONI ANEMIA	PS227650	ClinVar, OMIM, HUMSAVAR
CTSD	CEROID LIPOFUSCINOSES	PS256730	ClinVar, OMIM, HUMSAVAR
CIITA	RHEUMATOID ARTHRITIS	180300	ClinVar, OMIM
XIAP	LYMPHOPROLIFERATIVE SYNDROME	PS308240	ClinVar, OMIM
MEF2A	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1	608320	OMIM
PNLIP	PANCREATIC LIPASE DEFICIENCY	614338	OMIM
RLBP1	BOTHNIA RETINAL DYSTROPHY	607475	ClinVar, OMIM, HUMSAVAR
COL3A1	EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT	130050	ClinVar, OMIM, HUMSAVAR
ORC1	MEIER-GORLIN SYNDROME	PS224690	ClinVar, OMIM, HUMSAVAR
HBA2	HEMOGLOBIN H DISEASE	613978	OMIM
VCP	AMYOTROPHIC LATERAL SCLEROSIS	PS105400	ClinVar, OMIM, HUMSAVAR
SLC4A1	OVALOCYTOSIS, SOUTHEAST ASIAN	166900	OMIM
ACTC1	DILATED CARDIOMYOPATHY	PS115200	ClinVar, OMIM, HUMSAVAR
POMT1	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B	PS613155	ClinVar, OMIM, HUMSAVAR
ICOS	IMMUNODEFICIENCY, COMMON VARIABLE	PS607594	OMIM
ACSL4	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	ClinVar, OMIM, HUMSAVAR
ELAC2	PROSTATE CANCER, HEREDITARY, 2	614731	ClinVar, OMIM, HUMSAVAR
CALR3	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	PS192600	ClinVar, OMIM, HUMSAVAR
SERPING1	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF	120790	OMIM
SGSH	MUCOPOLYSACCHARIDOSES	PS607014	ClinVar, OMIM, HUMSAVAR
INSR	PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES	262190	OMIM, HUMSAVAR
TCF4	PITT-HOPKINS SYNDROME	610954	ClinVar, OMIM, HUMSAVAR
TMC8	EPIDERMODYSPLASIA VERRUCIFORMIS	226400	ClinVar, OMIM
ALAS2	ANEMIA, SIDEROBLASTIC	PS300751	ClinVar, OMIM, HUMSAVAR
RSPO4	NAIL DISORDER, NONSYNDROMIC CONGENITAL	PS161050	ClinVar, OMIM, HUMSAVAR
NCSTN	ACNE INVERSA	PS142690	ClinVar, OMIM, HUMSAVAR
KISS1R	PRECOCIOUS PUBERTY, CENTRAL	PS176400	ClinVar, OMIM, HUMSAVAR
BCKDK	BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY	614923	ClinVar, OMIM, HUMSAVAR
SLX4	FANCONI ANEMIA	PS227650	ClinVar, OMIM
LPIN2	MAJEED SYNDROME	609628	OMIM, HUMSAVAR
C21orf59	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM
FOXL2	PREMATURE OVARIAN FAILURE 3	608996	ClinVar, OMIM, HUMSAVAR
STRA6	MICROPHTHALMIA, SYNDROMIC	PS309800	ClinVar, OMIM, HUMSAVAR
ERCC6	CEREBROOCULOFACIOSKELETAL SYNDROME	PS214150	ClinVar, OMIM, HUMSAVAR
WNK4	PSEUDOHYPOALDOSTERONISM, TYPE II	PS145260	ClinVar, OMIM, HUMSAVAR
MT-ND5	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	540000	OMIM, HUMSAVAR
BCL10	LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE	137245	OMIM
MEN1	MULTIPLE ENDOCRINE NEOPLASIA	PS131100	ClinVar, OMIM, HUMSAVAR
TRIP11	ACHONDROGENESIS	PS200600	ClinVar, OMIM
GNAT1	NIGHT BLINDNESS, CONGENITAL STATIONARY	PS310500	ClinVar, OMIM, HUMSAVAR
RRM2B	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MTDNA DELETIONS	PS157640	ClinVar, OMIM
HBG2	CYANOSIS, TRANSIENT NEONATAL	613977	ClinVar, OMIM, HUMSAVAR
PRKACA	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4	615830	ClinVar, OMIM, HUMSAVAR
HTR2A	OBSESSIVE-COMPULSIVE DISORDER	164230	OMIM
PGAM2	GLYCOGEN STORAGE DISEASE X	261670	ClinVar, OMIM, HUMSAVAR
SDHC	PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	606864	OMIM
AURKC	SPERMATOGENIC FAILURE	PS258150	ClinVar, OMIM
INF2	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E	614455	ClinVar, OMIM, HUMSAVAR
EPHX2	HYPERCHOLESTEROLEMIA, FAMILIAL	143890	ClinVar, OMIM
KIZ	RETINITIS PIGMENTOSA	PS268000	ClinVar, OMIM
CYP2C19	DRUG METABOLISM, POOR, CYP2C19-RELATED	609535	OMIM
C3	COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE	613779	OMIM, HUMSAVAR
KIF4A	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	PS309530	OMIM
MKKS	BARDET-BIEDL SYNDROME	PS209900	ClinVar, OMIM, HUMSAVAR
CDKL5	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	PS308350	ClinVar, OMIM, HUMSAVAR
ARX	LISSENCEPHALY	PS607432	ClinVar, OMIM, HUMSAVAR
GPD1L	SUDDEN INFANT DEATH SYNDROME	272120	ClinVar, HUMSAVAR
MAPT	PICK DISEASE OF BRAIN	172700	ClinVar, OMIM, HUMSAVAR
TNNT2	FAMILIAL RESTRICTIVE CARDIOMYOPATHY	PS115210	ClinVar, OMIM
TLR4	COLORECTAL CANCER	114500	OMIM
CCNO	PRIMARY CILIARY DYSKINESIA	PS244400	ClinVar, OMIM, HUMSAVAR
PRKCH	STROKE, ISCHEMIC	601367	OMIM
IRAK4	INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED	PS610799	ClinVar, OMIM
IL10RB	HEPATITIS B VIRUS, SUSCEPTIBILITY TO	610424	ClinVar, OMIM
NR4A3	CHONDROSARCOMA, EXTRASKELETAL MYXOID	612237	OMIM
ATL1	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	PS162400	ClinVar, OMIM, HUMSAVAR
TECTA	DEAFNESS, AUTOSOMAL DOMINANT	PS124900	ClinVar, OMIM, HUMSAVAR
PITX2	IRIDOGONIODYSGENESIS, TYPE 2	137600	ClinVar, OMIM, HUMSAVAR
FKRP	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	PS236670	ClinVar, OMIM, HUMSAVAR
SMOC1	MICROPHTHALMIA WITH LIMB ANOMALIES	206920	ClinVar, OMIM, HUMSAVAR
KCNQ1	SHORT QT SYNDROME	PS609620	ClinVar, OMIM, HUMSAVAR
COG4	CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II	PS212066	ClinVar, OMIM, HUMSAVAR
PPP1R3A	LIPODYSTROPHY, FAMILIAL PARTIAL	PS151660	OMIM
NDUFS3	MITOCHONDRIAL COMPLEX I DEFICIENCY	252010	OMIM
HOXD13	BRACHYDACTYLY, TYPE E1	113300	ClinVar, OMIM, HUMSAVAR
SACS	SPASTIC ATAXIA	PS108600	ClinVar, OMIM, HUMSAVAR
POC1A	SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS	614813	ClinVar, OMIM, HUMSAVAR
SERPINA1	PULMONARY DISEASE, CHRONIC OBSTRUCTIVE	606963	OMIM
COX10	LEIGH SYNDROME	256000	OMIM
NOTCH2	HAJDU-CHENEY SYNDROME	102500	ClinVar, OMIM
HAGH	HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY	614033	OMIM
CLDN16	HYPOMAGNESEMIA	PS602014	ClinVar, OMIM, HUMSAVAR
PROZ	PROTEIN Z DEFICIENCY	614024	OMIM
FGFR1	PFEIFFER SYNDROME	101600	ClinVar, OMIM, HUMSAVAR
NDUFB11	LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES	PS309801	ClinVar, OMIM
CDH1	PROSTATE CANCER	176807	OMIM
DPYD	HIRSCHSPRUNG DISEASE	PS142623	ClinVar
F12	FACTOR XII DEFICIENCY	234000	OMIM, HUMSAVAR
SCGB3A2	ASTHMA, SUSCEPTIBILITY TO	600807	ClinVar, OMIM
MT-CYB	MYOGLOBINURIA, RECURRENT	550500	OMIM
TAF6	CORNELIA DE LANGE SYNDROME	PS122470	ClinVar
CISH	MALARIA, SUSCEPTIBILITY TO	611162	OMIM
CERS3	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE	PS242300	ClinVar, OMIM
MT-TS1	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	540000	OMIM
TRAIP	SECKEL SYNDROME	PS210600	ClinVar, OMIM
STK10	TESTICULAR GERM CELL TUMOR	273300	HUMSAVAR

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