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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