HEMATOLOGY

L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CAMURATI-ENGELMANN DISEASE, NEPHRONOPHTHISIS 1, JUVENILE, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPHEROCYTOSIS, TYPE 4, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, BONE MARROW FAILURE SYNDROME 1, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, COMBINED FACTOR V AND VIII DEFICIENCY, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, PORENCEPHALY 1, STORMORKEN SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, NIEMANN-PICK DISEASE TYPE C1, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, GREENBERG SKELETAL DYSPLASIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, SPHEROCYTOSIS, TYPE 2, PYRUVATE KINASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, YUNIS-VARON SYNDROME, PRIMARY PULMONARY HYPERTENSION, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MYELOPEROXIDASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, HERMANSKY-PUDLAK SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP C, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, HEREDITARY PYROPOIKILOCYTOSIS, POLYCYTHEMIA VERA, SOMATIC, PELGER-HUET ANOMALY, NIEMANN-PICK DISEASE, TYPE A, OVALOCYTOSIS, SA TYPE, BLEEDING DISORDER, PLATELET-TYPE, 15, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, WOLFRAM SYNDROME 2, SENIOR-LOKEN SYNDROME-1, NIEMANN-PICK DISEASE, TYPE C2, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, CRYOHYDROCYTOSIS, ELLIPTOCYTOSIS-2, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, GRAY PLATELET SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, INTRINSIC FACTOR DEFICIENCY, GLYCOGEN STORAGE DISEASE IC, LATHOSTEROLOSIS, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, ABETALIPOPROTEINEMIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ASPARTYLGLUCOSAMINURIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HETEROTOPIA, PERIVENTRICULAR, GLANZMANN THROMBASTHENIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, IMMUNODEFICIENCY 46, NETHERTON SYNDROME, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DIAMOND-BLACKFAN ANEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, IMMUNODEFICIENCY 10, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, APOE, F2, APOB, SRD5A3, LBR, PGK1, CIITA, TBXA2R, RPL5, FTL, ALPL, AGT, CLN3, G6PC3, FGA, LRBA, SLC37A4, SPTA1, LMAN1, MPO, NPC1, TFRC, BLOC1S6, RPS19, GFI1B, FGG, CYB5R3, ADAR, CD40, PRKACG, FIG4, F7, PLEC, PLAU, LZTR1, SPINK5, IRF5, ACTN1, KNG1, PKLR, CPOX, CAD, IKBKG, MTOR, HLA-DRB1, BMPR1A, CBL, CCND1, JAK2, SC5D, PFKM, SNX10, SLC4A1, TMEM173, WAS, BRAF, CUBN, MYD88, KCNA5, PIGA, STIM1, CALR, ITGB3, SMPD1, SSR4, SMAD4, VWF, CBS, C3, CD40LG, FLNA, CASR, VHL, COL4A1, KIF1B, FOXP3, KRAS, ELANE, MUT, CISD2, PIEZO1, PEX19, PSTPIP1, HSPA9, NF1, MTTP, NPC2, DDOST, DDX41, DPM1, TNFSF11, GIF, PRKCD, CD59, CHIC2, NPHP1, TGFB1, PTPN11, FTH1, AP3B1, ABCB6, STAT1, STAT3, MT-CO2, NOS3, SOS1, NPM1, FANCC, CACNA1S, NT5C3A, AGA, MTRR, FASLG, ANK1, MPDU1, SRP72, SPTB, BMPR2, NBEAL2, SERPINE1, RYR1

WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ABETALIPOPROTEINEMIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, FACTOR X DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, COMBINED FACTOR V AND VIII DEFICIENCY, PYRUVATE KINASE DEFICIENCY, SEA-BLUE HISTIOCYTE DISEASE, FACTOR V DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, MAY-HEGGLIN ANOMALY, ATRANSFERRINEMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, HYPOBETALIPOPROTEINEMIA, HEMOPHILIA B, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, RHEUMATOID ARTHRITIS, LEUKOCYTE ADHESION DEFICIENCY, SEBASTIAN SYNDROME, CAMURATI-ENGELMANN DISEASE, PORENCEPHALY 1, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, GLYCOGEN STORAGE DISEASE XII, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, FACTOR VII DEFICIENCY, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, F5, ALDOA, APOB, RUNX1, SSR4, F7, GP1BA, VWF, F9, CIITA, PKLR, CXCR4, CD40LG, F2, MYH9, AGT, TGFB1, MTOR, VHL, COL4A1, FLT3, NOS3, ITGA2, ITGB2, FGA, CBL, LMAN1, ACTN4, GGCX, CCND1, F8, BMPR1A, PDGFRA, TF, PTPN11, F10, CALR, GP9, MTTP, STAT3, BMPR2, SERPINE1, COL7A1

REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, BONE MARROW FAILURE SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 6, COMBINED FACTOR V AND VIII DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, STORMORKEN SYNDROME, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, GREENBERG SKELETAL DYSPLASIA, METHEMOGLOBINEMIA, TYPE IV, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, HEMOCHROMATOSIS, TYPE 2B, ?THROMBOXANE SYNTHASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, SENIOR-LOKEN SYNDROME-1, DIAMOND-BLACKFAN ANEMIA 9, PRIMARY PULMONARY HYPERTENSION, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [BOMBAY PHENOTYPE], IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, FACTOR X DEFICIENCY, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, NEPHRONOPHTHISIS 1, JUVENILE, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, PELGER-HUET ANOMALY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, WOLFRAM SYNDROME 2, GHOSAL HEMATODIAPHYSEAL SYNDROME, GLYCOGEN STORAGE DISEASE IA, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, NOONAN SYNDROME 10, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, HEMOCHROMATOSIS, TYPE 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, WISKOTT-ALDRICH SYNDROME, HYPERPARATHYROIDISM, NEONATAL, GLYCOGEN STORAGE DISEASE IC, LATHOSTEROLOSIS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, TRIMETHYLAMINURIA, BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HETEROTOPIA, PERIVENTRICULAR, GLANZMANN THROMBASTHENIA, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, NEPHRONOPHTHISIS 11, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, SICKLE CELL ANEMIA, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, NETHERTON SYNDROME, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CHEDIAK-HIGASHI SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, DIAMOND-BLACKFAN ANEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, IMMUNODEFICIENCY 10, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, F2, HBB, CYB5A, APOB, FMO3, F8, SRD5A3, LBR, PGK1, FUT2, IKBKG, CYCS, BMPR1A, RPL5, ALDOA, AGT, TREX1, GGCX, G6PC3, STK11, SLC37A4, LMAN1, G6PC, CYB5R3, PIGM, CD81, KRAS, CYP4V2, LZTR1, HAMP, NME1, LYST, PIGT, NOS3, MYD88, RYR1, EPHX1, ACTN1, CBL, ALG2, CCND1, HLA-DRB1, TMEM173, RPS10, ALG6, WAS, SEC23B, ACD, BMPR2, STIM1, CALR, ITGB3, SMAD4, VWF, CBS, SRP72, SC5D, CASR, BCS1L, CISD2, FOXP3, TBXAS1, DTNBP1, FASLG, PIEZO1, CD40, PLAU, CYP2C9, ABCD4, PSTPIP1, RPS19, SPINK5, DDOST, VKORC1, SSR4, DPM1, FLNA, SLC40A1, PIGA, NPHP1, TGFB1, PTPN11, STAT1, STAT3, MT-CO2, CYP2A6, TINF2, NPM1, RPL11, ALPL, DPAGT1, PEX19, F10, TMEM67, MPDU1, SERPINF2, CYP7B1, HSD3B7, SERPINE1, ALG13, MTOR

REVESZ SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, NEPHRONOPHTHISIS 1, JUVENILE, ANEMIA, SIDEROBLASTIC, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, BARTTER SYNDROME, TYPE 2, BENT BONE DYSPLASIA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DIAMOND-BLACKFAN ANEMIA 13, SENIOR-LOKEN SYNDROME 4, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 4, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, TRANSALDOLASE DEFICIENCY, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HERMANSKY-PUDLAK SYNDROME 1, SPHEROCYTOSIS, TYPE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, DIAMOND-BLACKFAN ANEMIA 9, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, SPHEROCYTOSIS, TYPE 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, NEPHRONOPHTHISIS 4, FANCONI ANEMIA, COMPLEMENTATION GROUP P, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, DIAMOND-BLACKFAN ANEMIA 8, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, HEREDITARY PYROPOIKILOCYTOSIS, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, HETEROTOPIA, PERIVENTRICULAR, BLEEDING DISORDER, PLATELET-TYPE, 15, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PLATELET GLYCOPROTEIN IV DEFICIENCY, ELLIPTOCYTOSIS-2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, BLEEDING DISORDER, PLATELET-TYPE, 11, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, DIAMOND-BLACKFAN ANEMIA 1, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, QUEBEC PLATELET DISORDER, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?BLEEDING DISORDER, PLATELET-TYPE, 18, SEA-BLUE HISTIOCYTE DISEASE, CHEDIAK-HIGASHI SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, HYPERPARATHYROIDISM, NEONATAL, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

CA2, APOE, C3AR1, F2, APOB, MMP1, FAS, FERMT3, CIITA, TBXA2R, RPL5, AGT, NPHP4, ITGA2B, SPTA1, FGA, ENG, TERT, NEU1, GATA2, CYCS, SOS1, BLOC1S6, RPS19, GFI1B, SMAD4, CD81, PLEC, PLAU, NME1, LYST, PIGT, NOS3, KCNJ1, IKBKG, MTOR, CRIPT, SCARB2, ACTN1, ITGA2, RPS29, MECOM, CBL, CCND1, JAK2, ANK1, TALDO1, GP6, C3, RPS10, LPP, ITK, RPS17, STAT3, BRAF, ACD, MYD88, KCNA5, CALR, ITGB3, RPS14, ADAR, STAT1, FLNA, CASR, NUP214, VHL, KIF1B, ITGB2, KRAS, ELANE, DTNBP1, FASLG, SH3GL1, PSTPIP1, HSPA9, RPS7, XRCC4, THBD, DDOST, TPI1, KIT, BCR, AIRE, SLC2A1, PRKCD, CD59, KNG1, NPHP1, CLDN1, PTPN11, CXCR4, B4GALT1, KLF1, MYH9, TGFB1, ERCC4, WAS, SPATA5, RASGRP2, PICALM, ARHGAP26, FGFR2, ACTN4, TNFSF11, NPM1, CACNA1S, STX11, SLX4, CD36, TMEM67, AP3B1, ADA, OCLN, ATR, CD46, BMPR2, TINF2, SERPINE1, RYR1

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BENT BONE DYSPLASIA SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ELLIPTOCYTOSIS-2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, DIAMOND-BLACKFAN ANEMIA 13, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 4, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 8, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DIAMOND-BLACKFAN ANEMIA 6, HETEROTOPIA, PERIVENTRICULAR, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, PLATELET GLYCOPROTEIN IV DEFICIENCY, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DIAMOND-BLACKFAN ANEMIA 9, ERYTHROCYTOSIS, FAMILIAL, 2, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, WISKOTT-ALDRICH SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SEA-BLUE HISTIOCYTE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

APOE, GFI1B, CALR, TNFSF11, SPTA1, APOB, RPS14, CBL, PLAU, SMAD4, KNG1, WAS, PIGT, TGFB1, CYCS, NOS3, FLNA, RPL5, ITGA2B, KRAS, ITGB3, AGT, CLDN1, NPM1, VHL, CD46, MMP1, THBD, KIF1B, ACTN1, ITGA2, ITGB2, ARHGAP26, C3AR1, PLEC, SOS1, FGA, FGFR2, ACTN4, HSPA9, CCND1, ENG, PRKCD, JAK2, STAT1, RPS29, RPS17, F2, PTPN11, CD36, BCR, RPS10, CD81, RPS19, LPP, RPS7, CD59, STAT3, BRAF, SCARB2, KIT, SERPINE1, NUP214

CAMURATI-ENGELMANN DISEASE, NIEMANN-PICK DISEASE, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, TRANSCOBALAMIN II DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE III, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, RHEUMATOID ARTHRITIS, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, GAUCHER DISEASE, TYPE II, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, GAUCHER DISEASE, TYPE IIIC, GAUCHER DISEASE, TYPE I, INTRINSIC FACTOR DEFICIENCY

FASLG, STAT1, NEU1, GLB1, GBA, CBL, SMPD1, GLA, HLA-DRB1, GIF, SCARB2, ELANE, ACP2, CUBN, TGFB1, TCN2, NOS3

GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, VON WILLEBRAND DISEASE, TYPE 1, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, EMBERGER SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, SEA-BLUE HISTIOCYTE DISEASE, FACTOR V DEFICIENCY, GLANZMANN THROMBASTHENIA, ATRANSFERRINEMIA, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, CAMURATI-ENGELMANN DISEASE, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], FACTOR XIIIA DEFICIENCY, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, CALR, ITGB3, HBB, APOB, F5, FGB, TGFB1, HBA1, ACTN1, STAT1, ALDOA, KNG1, AGT, HRG, F8, NOS3, ITGB2, ITGA2B, FGA, IL10, ACTN4, TF, F2, FASLG, FGG, SERPINF2, F13A1, ADA, SERPINE1, GATA2, VWF

REVESZ SYNDROME, RETICULAR DYSGENESIS, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, NEPHRONOPHTHISIS 1, JUVENILE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MANNOSIDOSIS, ALPHA-, TYPES I AND II, {THIOPURINES, POOR METABOLISM OF, 1}, EMBERGER SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, DIAMOND-BLACKFAN ANEMIA 5, SPHEROCYTOSIS, TYPE 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, DIAMOND-BLACKFAN ANEMIA 13, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, LYSINURIC PROTEIN INTOLERANCE, BONE MARROW FAILURE SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, FACTOR V DEFICIENCY, COMBINED FACTOR V AND VIII DEFICIENCY, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, INTERSTITIAL LUNG AND LIVER DISEASE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, GLANZMANN THROMBASTHENIA, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, BENT BONE DYSPLASIA SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, ?DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, FAVISM, SPHEROCYTOSIS, TYPE 1, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, HYPOPHOSPHATASIA, INFANTILE, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, TRICHOHEPATOENTERIC SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 8, ANEMIA, SIDEROBLASTIC, 4, HEMOPHILIA B, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FACTOR XII DEFICIENCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, GAUCHER DISEASE, TYPE IIIC, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, DIAMOND-BLACKFAN ANEMIA 9, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, NOONAN SYNDROME 4, OROTIC ACIDURIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, NORUM DISEASE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, [GLYOXALASE II DEFICIENCY], NIEMANN-PICK DISEASE TYPE C1, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, NIEMANN-PICK DISEASE, TYPE A, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, METHEMOGLOBINEMIA, TYPE IV, TRANSCOBALAMIN II DEFICIENCY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DYSKERATOSIS CONGENITA, X-LINKED, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, [BOMBAY PHENOTYPE], PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, FECHTNER SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ?DIAMOND-BLACKFAN ANEMIA 11, MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, DIAMOND-BLACKFAN ANEMIA 10, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 7, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CHOREOACANTHOCYTOSIS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, GAUCHER DISEASE, TYPE I, [BLOOD GROUP, VEL SYSTEM], ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, HEREDITARY PYROPOIKILOCYTOSIS, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, SHWACHMAN-DIAMOND SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, PROLIDASE DEFICIENCY, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, FUMARASE DEFICIENCY, OVALOCYTOSIS, SA TYPE, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 15, SCOTT SYNDROME, EPSTEIN SYNDROME, NIJMEGEN BREAKAGE SYNDROME, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], FANCONI ANEMIA, COMPLEMENTATION GROUP D1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, SENIOR-LOKEN SYNDROME-1, NIEMANN-PICK DISEASE, TYPE C2, WHIM SYNDROME, HYPER-IGD SYNDROME, SPHEROCYTOSIS, TYPE 2, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, THROMBOCYTHEMIA 3, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, CRYOHYDROCYTOSIS, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, ELLIPTOCYTOSIS-2, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, HEMOCHROMATOSIS, TYPE 4, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, INTRINSIC FACTOR DEFICIENCY, LATHOSTEROLOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, PLATELET GLYCOPROTEIN IV DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, IMMUNODEFICIENCY 46, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HAMAMY SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, ABETALIPOPROTEINEMIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, ASPARTYLGLUCOSAMINURIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, BLEEDING DISORDER, PLATELET-TYPE, 11, [BLOOD GROUP, LUTHERAN NULL], TRANSALDOLASE DEFICIENCY, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, GLUTATHIONE SYNTHETASE DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, DIAMOND-BLACKFAN ANEMIA 1, MAY-HEGGLIN ANOMALY, LESCH-NYHAN SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, LEUKEMIA, CHRONIC MYELOID, SOMATIC, GAUCHER DISEASE, TYPE II, GM1-GANGLIOSIDOSIS, TYPE III, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, THROMBOCYTOPENIA 4, ?DIAMOND-BLACKFAN ANEMIA 12, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, HERMANSKY-PUDLAK SYNDROME 1, FACTOR XIIIA DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, NETHERTON SYNDROME, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHEDIAK-HIGASHI SYNDROME, {CELIAC DISEASE, SUSCEPTIBILITY TO}, THROMBOCYTOPENIA 5, HETEROTOPIA, PERIVENTRICULAR, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, CYANOSIS, TRANSIENT NEONATAL, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, KCNA5, APOE, BRCA2, FANCM, RPS26, HBB, CYB5A, CLN3, CP, MMP1, SBDS, GP1BA, SPATA5, ACP2, FAS, PGK1, SC5D, IKBKG, RPS7, NPHP1, DGUOK, RPL5, ALDOA, TUBB1, F2, HAGH, AGT, NBN, PMM2, FUT2, PIGT, AK2, TREX1, NPC1, GGCX, ITGA2B, TCN2, SPTA1, FGA, PLAU, IRX5, STK11, DNASE1, F8, ENG, IL2RA, LRBA, TFRC, FH, RPL15, LMAN1, HLA-DQA1, ALG2, MPO, PNPO, SRP72, PRF1, PICALM, BLOC1S6, RPS19, GFI1B, FGG, CYB5R3, CECR1, SMAD4, CD40, ABCB6, VIPAS39, UMPS, PRKACG, CD81, SLC4A4, AMN, APOB, NUP214, RPS28, KLF1, PLEC, CLCN7, RUNX1, CBL, CIITA, BRAF, VWF, LZTR1, ABCD3, NME1, MPI, LYST, F9, ETV6, NOS3, THRA, THPO, TTC37, CAD, MYD88, ANO6, GPI, ACVRL1, NEU1, SLC40A1, SCARB2, GPX1, TBXA2R, ITGA2, RPS29, ALAD, CD27, CALR, DHFR, IL10, PSMB8, NFKBIL1, CCND1, RPL11, WHSC1L1, MUC1, VPS33B, HPS1, SLC25A13, FANCC, GP6, AK1, FTL, HPRT1, UMOD, FCGR2A, TMEM173, OCLN, ALPL, RPS10, NLRC4, SMAD9, RYR1, LPP, SLC7A7, GP9, TALDO1, KNG1, AGA, TSR2, PKLR, SEC23B, ACD, MPDU1, F7, GSS, BMPR2, GATA1, PIGA, LARS, GCLC, GLB1, SLC4A1, DKC1, SMPD1, KCNN4, SSR4, FTCD, STX11, ADAR, CYP2C9, HBG2, CBFB, CYP7B1, FGB, CBS, F12, MVK, HLA-DRB1, PADI4, TNFSF11, CASR, PNP, HRG, VHL, BCS1L, CFH, KIF1B, FOXP3, SPINK5, BRCA1, MTOR, C3, CFHR3, KRAS, TPI1, SLC11A2, DTNBP1, MTTP, RPS17, WAS, BMPR1A, THBD, COG4, TINF2, PEX19, ITGB2, PHGDH, CYCS, VPS13A, SH3GL1, TMEM67, PSTPIP1, FANCA, HSPA9, CUBN, NF1, F13A1, FERMT3, HAMP, ADA, NPC2, ACP5, DDOST, ELANE, LMBRD1, F5, KIT, STAT3, BCR, SH2D1A, FAH, PFKM, NRAS, IRF5, SLC2A1, GIF, ITK, MLF1, CD40LG, PRKCD, TPMT, MUT, SMIM1, CD59, CHIC2, HBA1, CASP10, TGFB1, FLNA, PTPN11, CXCR4, B4GALT1, MAN2B1, MYH9, AP3B1, CLDN1, REN, STAT1, CD46, MT-CO2, CFI, G6PD, RPL35A, PEPD, AKR1D1, BCAM, SOS1, CFB, LCAT, FGFR2, ACTN4, BPGM, NPM1, GBA, MARS, GLA, TNFAIP3, PDGFRA, CACNA1S, RPL26, LAMTOR2, COL4A1, TF, CD36, ACTN1, CTLA4, MTRR, F10, FTH1, FASLG, ANK1, MTR, SARS2, CFHR1, SERPINF2, RPS14, VPS45, TERT, ATR, SPTB, ITGB3, COL7A1, C10orf2, JAK2, SERPINE1, GATA2, CDAN1

HYPOBETALIPOPROTEINEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, SEA-BLUE HISTIOCYTE DISEASE, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-

IL10, HBB, APOB, STAT1, APOE, CALR, HBA1

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, REVESZ SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, PRIMARY PULMONARY HYPERTENSION, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, ASPARTYLGLUCOSAMINURIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MANNOSIDOSIS, ALPHA-, TYPES I AND II, NIEMANN-PICK DISEASE TYPE C1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GM1-GANGLIOSIDOSIS, TYPE II, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, NIEMANN-PICK DISEASE, TYPE C2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, CEROID LIPOFUSCINOSIS, NEURONAL, 3, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, COMBINED FACTOR V AND VIII DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE III, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, RHEUMATOID ARTHRITIS, HERMANSKY-PUDLAK SYNDROME 1, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, GLYCOGEN STORAGE DISEASE XII, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, WHIM SYNDROME, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, MYELOPEROXIDASE DEFICIENCY, IMMUNODEFICIENCY 46, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, HERMANSKY-PUDLAK SYNDROME 2, SEA-BLUE HISTIOCYTE DISEASE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, SMITH-KINGSMORE SYNDROME, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2

KCNA5, FASLG, APOE, NME1, GLB1, CLN3, IL2RA, PLAU, PRF1, ACP2, FAS, FERMT3, IRF5, TGFB1, NOS3, CXCR4, ACP5, ALDOA, AP3B1, AGT, MYD88, MTOR, HLA-DRB1, STAT3, F8, TNFAIP3, SCARB2, BRCA1, ELANE, CALR, FGA, CBL, LMAN1, SLC11A2, MAN2B1, CCDC115, LRBA, GLA, STAT1, VPS33B, TF, AGA, MPO, HPS1, NPC1, TFRC, CASR, ADA, CUBN, NF1, ITK, KNG1, NEU1, NPC2, TINF2, SPATA5, KIT, SERPINE1, HRG

L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BARTTER SYNDROME, TYPE 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 4, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, FACTOR V DEFICIENCY, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, GAUCHER DISEASE, TYPE IIIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, BLEEDING DISORDER, PLATELET-TYPE, 15, SPHEROCYTOSIS, TYPE 4, ?GLYCOPROTEIN IA DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, ATRANSFERRINEMIA, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, CYANOSIS, TRANSIENT NEONATAL, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IRON-REFRACTORY IRON DEFICIENCY ANEMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, EMBERGER SYNDROME, PELGER-HUET ANOMALY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], GHOSAL HEMATODIAPHYSEAL SYNDROME, HYPER-IGD SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, ELLIPTOCYTOSIS-2, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, GLYCOGEN STORAGE DISEASE IC, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, TRIMETHYLAMINURIA, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, TYROSINEMIA, TYPE I, SCOTT SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, THROMBOCYTHEMIA 2, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, GLANZMANN THROMBASTHENIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, ANEMIA, SIDEROBLASTIC, 1, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, HETEROTOPIA, PERIVENTRICULAR, FANCONI ANEMIA, COMPLEMENTATION GROUP C, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ANEMIA, SIDEROBLASTIC, 4, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, BONE MARROW FAILURE SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?HEMOCHROMATOSIS, TYPE 5, NIJMEGEN BREAKAGE SYNDROME, COMBINED FACTOR V AND VIII DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, STORMORKEN SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ACUTE MYELOID LEUKEMIA, M6 TYPE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, FOLATE MALABSORPTION, HEREDITARY, DIAMOND-BLACKFAN ANEMIA 8, HEMOCHROMATOSIS, TYPE 2B, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, DYSKERATOSIS CONGENITA, X-LINKED, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, PRIMARY PULMONARY HYPERTENSION, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, MYELOPEROXIDASE DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, GAUCHER DISEASE, TYPE I, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETICULAR DYSGENESIS, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?INFANTILE LIVER FAILURE SYNDROME 1, PROLIDASE DEFICIENCY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, TRICHOHEPATOENTERIC SYNDROME 1, OVALOCYTOSIS, SA TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, PEROXISOME BIOGENESIS DISORDER 3B, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, NOONAN SYNDROME 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, ?DIAMOND-BLACKFAN ANEMIA 12, RENAL TUBULAR ACIDOSIS, DISTAL, AR, IMMUNODEFICIENCY 23, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, ERYTHROCYTOSIS, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CEROID LIPOFUSCINOSIS, NEURONAL, 3, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, FACTOR XIIIA DEFICIENCY, GRAY PLATELET SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GAUCHER DISEASE, TYPE III, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, TRANSCOBALAMIN II DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 1, GAUCHER DISEASE, TYPE II, IMMUNODEFICIENCY 10, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, REVESZ SYNDROME, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, DIAMOND-BLACKFAN ANEMIA 5, FAVISM, WILSON DISEASE, SENIOR-LOKEN SYNDROME 4, ?DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, FECHTNER SYNDROME, ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, FACTOR XII DEFICIENCY, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, DIAMOND-BLACKFAN ANEMIA 9, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, SITOSTEROLEMIA, NIEMANN-PICK DISEASE TYPE C1, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, GALACTOSEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?THROMBOXANE SYNTHASE DEFICIENCY, BARTH SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, YUNIS-VARON SYNDROME, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, [BOMBAY PHENOTYPE], ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 10, FACTOR VII DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, WOLFRAM SYNDROME 2, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, CRYOHYDROCYTOSIS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HEMOPHILIA B, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PEUTZ-JEGHERS SYNDROME, WISKOTT-ALDRICH SYNDROME, NIEMANN-PICK DISEASE, TYPE B, INTRINSIC FACTOR DEFICIENCY, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, COENZYME Q10 DEFICIENCY, PRIMARY, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, COPROPORPHYRIA, HARDEROPORPHYRIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, SENGERS SYNDROME, [BLOOD GROUP, LUTHERAN NULL], HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, GLYCOGEN STORAGE DISEASE IA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, DIAMOND-BLACKFAN ANEMIA 3, ?BLEEDING DISORDER, PLATELET-TYPE, 19, AICARDI-GOUTIERES SYNDROME 5, FANCONI ANEMIA, COMPLEMENTATION GROUP T, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, THROMBOCYTOPENIA 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, IMMUNODEFICIENCY 21, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LYSINURIC PROTEIN INTOLERANCE, INTERSTITIAL LUNG AND LIVER DISEASE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HERMANSKY-PUDLAK SYNDROME 1, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, SPHEROCYTOSIS, TYPE 3, NEPHRONOPHTHISIS 4, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, METHEMOGLOBINEMIA, TYPE IV, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PYRUVATE KINASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, NEUTROPENIA, CYCLIC, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, FACTOR X DEFICIENCY, IVIC SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HEREDITARY PYROPOIKILOCYTOSIS, INFANTILE LIVER FAILURE SYNDROME 2, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, SENIOR-LOKEN SYNDROME-1, NIEMANN-PICK DISEASE, TYPE C2, WHIM SYNDROME, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, PLATELET GLYCOPROTEIN IV DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 9, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, CATARACT 13 WITH ADULT I PHENOTYPE, HYPERPARATHYROIDISM, NEONATAL, LATHOSTEROLOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, FANCONI ANEMIA, COMPLEMENTATION GROUP L, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, SEA-BLUE HISTIOCYTE DISEASE, ABETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 11, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, GM1-GANGLIOSIDOSIS, TYPE III, THROMBOCYTOPENIA 4, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, IMMUNODEFICIENCY 46, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, SPHEROCYTOSIS, TYPE 2, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, APOE, HBB, CYB5A, CLN3, GP1BA, LBR, CIITA, BMPR1A, RPL5, FTL, GGCX, RASGRP2, ENG, FH, AGK, G6PC, GFI1B, SLC4A4, PIGM, RPS24, DGKE, ATRX, SPINK5, F9, PICALM, THRA, THPO, MTOR, CFH, MGAT2, TBXA2R, CD27, IL10, KCNJ1, TALDO1, JAK2, ANK1, VPS33B, STEAP3, ABCD4, LPP, ALAS2, CYB5R3, MT-CO1, GATA1, CP, TCIRG1, ALDOA, SLC35A2, IL2RA, NRAS, SMAD4, ETV6, SLC4A1, CD40LG, TNFSF11, SLC19A2, HRG, TPI1, PRKCD, SFXN4, HSPA9, CLDN1, HAMP, PIGA, SLC2A1, GIF, MLF1, SLC46A1, CD59, KNG1, NPHP1, PTPN11, PEX12, B4GALT1, STAT3, P2RY12, FLT3, VKORC1, CXCR4, RAB40AL, CALR, CD36, FANCL, HLA-DQB1, AP3B1, SARS2, P2RX1, SPTB, RPS26, TREX1, IRX5, MMP1, MT-CO2, F5, PGK1, ACTN1, DGUOK, TSR2, ITGA2B, G6PC3, FGA, LRBA, LMAN1, CYCS, MPO, COG6, SRP72, PRF1, FGG, CLCN7, CD81, GPX1, FIG4, CBFB, CYP4V2, CYP7B1, NME1, HBA1, SLC30A10, PKLR, TTC37, CBS, ANO6, GPI, SCARB2, SC5D, RHAG, GP6, CASR, LAMTOR2, BCAM, PTPN22, BRAF, CUBN, SOS2, STIM1, TF, ALPL, ADAR, FGB, SMAD9, TCN2, SLC29A3, FUT2, TAZ, UBE2T, HBG2, MUT, COG4, SH3GL1, PSTPIP1, HK1, NF1, GCLC, KIT, BCR, SERPINF2, AIRE, NBAS, IRF5, ABCB6, PEPD, FTH1, KMT2D, F8, SCO1, NUP214, CYP2A6, FCGR2B, ACTN4, PUS1, PGM3, CTLA4, TMEM67, CHIC2, ADA, EPOR, FCGR2A, C10orf2, SERPINE1, AK1, C3AR1, F2, SPTA1, F7, FAS, IKBKG, MUC1, AGT, AK2, NPHP4, APOB, STK11, CCDC115, SALL4, RPL15, FANCM, NPC1, SLC25A38, COX8A, PRKACG, AMN, ACP2, PLEC, RUNX1, CBL, LZTR1, FERMT3, NOS3, PARN, DCLRE1C, CCND1, CAD, GATA2, ACVRL1, ITGA2, GALT, WHSC1L1, PSMB8, SLC25A13, PFKM, C3, UMOD, SAMHD1, TMEM173, ALG6, GP9, RPS17, COX14, MLLT11, RPL26, TMEM165, COL7A1, KCNA5, ITGB3, DKC1, SMPD1, RPS14, DDX41, ABCG8, HLA-DRB1, TMPRSS6, TGFB1, VHL, BCS1L, KIF1B, BRCA1, ITGB2, COQ2, KLF1, FECH, RPS10, RPS19, RPS7, F13A1, ABCD3, THBD, SH2D1A, FAH, SSR4, SLC40A1, GCNT2, SLC22A4, DPM1, TNFAIP3, MYH9, ABCG5, WAS, SOS1, CD244, GBA, CACNA1S, ACD, STX11, F12, F10, CISD2, OCLN, VPS45, CD46, TINF2, TMEM199, DHFR, ALG13, DNAJC19, FMO3, TBCE, SRD5A3, PIGT, MYD88, SLC35A1, GLB1, NBN, STT3B, SLC11A2, COX10, KCNN4, COX6B1, NEU1, ALG2, COX20, TFRC, BLOC1S6, CECR1, CD40, UMPS, HLA-DQA1, KRAS, MTTP, LYST, CDAN1, GP1BB, CPOX, RYR1, EPHX1, FUT1, MECOM, MPL, ABCB7, STAT1, PDGFRA, SLC35C1, SLC25A15, SLC7A7, ITK, SEC23B, SPATA5, CFB, BMPR2, LARS, REN, COL4A1, RPS28, VWF, MVK, NLRC4, FOXP3, ELANE, DTNBP1, CFI, PIEZO1, PLAU, CYP2C9, SLC37A4, ATP7B, NPC2, DDOST, LMBRD1, FLNA, CASP10, RPL35A, G6PD, ARHGAP26, FGFR2, NBEAL2, CD3G, MARS, RPL11, FANCC, DPAGT1, PEX19, TBXAS1, FASLG, MPDU1, NHP2, ATR, HSD3B7, MTRR, NPM1

CAMURATI-ENGELMANN DISEASE, NIEMANN-PICK DISEASE, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, TRANSCOBALAMIN II DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE III, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, RHEUMATOID ARTHRITIS, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, GAUCHER DISEASE, TYPE II, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, GAUCHER DISEASE, TYPE IIIC, GAUCHER DISEASE, TYPE I, INTRINSIC FACTOR DEFICIENCY

FASLG, STAT1, NEU1, GLB1, GBA, CBL, SMPD1, GLA, HLA-DRB1, GIF, SCARB2, ELANE, ACP2, CUBN, TGFB1, TCN2, NOS3

HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, CYANOSIS, TRANSIENT NEONATAL, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, SICKLE CELL ANEMIA

HBB, HBA1, CYB5R3, HBG2

HYPOBETALIPOPROTEINEMIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ATRANSFERRINEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, POLYCYTHEMIA VERA, SOMATIC

PRF1, TF, JAK2, HLA-DRB1, STAT3, CALR, APOB

YUNIS-VARON SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, RHEUMATOID ARTHRITIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NIEMANN-PICK DISEASE TYPE C1, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1

HLA-DRB1, PICALM, PSMB8, SLC11A2, SLC29A3, VPS33B, NPC1, IRF5, TMEM165, FIG4

L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CAMURATI-ENGELMANN DISEASE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, SPHEROCYTOSIS, TYPE 4, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, BONE MARROW FAILURE SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, COMBINED FACTOR V AND VIII DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, FECHTNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, NIEMANN-PICK DISEASE TYPE C1, BENT BONE DYSPLASIA SYNDROME, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, GM1-GANGLIOSIDOSIS, TYPE II, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, [BOMBAY PHENOTYPE], IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, SEBASTIAN SYNDROME, HEREDITARY PYROPOIKILOCYTOSIS, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, OVALOCYTOSIS, SA TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, PLATELET GLYCOPROTEIN IV DEFICIENCY, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, CRYOHYDROCYTOSIS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, INTRINSIC FACTOR DEFICIENCY, EPSTEIN SYNDROME, GLYCOGEN STORAGE DISEASE VII, GALACTOSEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP L, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, ABETALIPOPROTEINEMIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, GLANZMANN THROMBASTHENIA, GM1-GANGLIOSIDOSIS, TYPE III, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, FACTOR XIIIA DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, KABUKI SYNDROME 1, HETEROTOPIA, PERIVENTRICULAR, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

KCNA5, APOE, NEU1, TREX1, CLN3, PICALM, PGK1, FUT2, IKBKG, ACTN1, RPL5, SLC35A1, ITGB3, AGT, NPC1, APOB, STK11, LRBA, LMAN1, COG6, TFRC, GFI1B, CD40, UMPS, CD81, FANCD2, KRAS, RUNX1, CBL, LZTR1, NME1, PIGT, PKLR, THRA, CAD, MYD88, RYR1, HLA-DRB1, GPI, FUT1, GALT, IL10, CCND1, JAK2, MUC1, VPS33B, PFKM, FTL, C3, TMEM173, ALPL, STAT3, CUBN, SOS2, GATA1, GLB1, SLC35A2, IL2RA, FTCD, SMAD4, SRP72, SLC4A1, CD40LG, CASR, VHL, SLC40A1, KIF1B, FOXP3, TPI1, COG4, PSTPIP1, F13A1, MTTP, DDOST, KIT, UMOD, FLNA, GIF, PRKCD, TGFB1, PTPN11, B4GALT1, KMT2D, MYH9, ABCB6, STAT1, SPTB, F8, NOS3, SOS1, FGFR2, ACTN4, NPM1, GLA, CPOX, STX11, CALR, CD36, CTLA4, TMEM165, FTH1, FANCL, FASLG, AP3B1, OCLN, VPS45, ATR, CD46, BMPR2, SERPINE1, GATA2

PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHILIA B, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FACTOR V DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, CAMURATI-ENGELMANN DISEASE, FACTOR VII DEFICIENCY, NOONAN SYNDROME 4, MEDULLARY CYSTIC KIDNEY DISEASE 1, FACTOR X DEFICIENCY, ATRANSFERRINEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

MUC1, F2, F5, CCND1, TF, APOB, MMP1, F8, AGT, STAT3, F7, GGCX, F10, NOS3, SOS1, F9, TGFB1, SERPINE1, ACTN1

REVESZ SYNDROME, FACTOR V DEFICIENCY, CAMURATI-ENGELMANN DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPHEROCYTOSIS, TYPE 4, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LYSINURIC PROTEIN INTOLERANCE, BONE MARROW FAILURE SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, COMBINED FACTOR V AND VIII DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, STORMORKEN SYNDROME, ATRANSFERRINEMIA, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, DIAMOND-BLACKFAN ANEMIA 9, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, SITOSTEROLEMIA, GLANZMANN THROMBASTHENIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, NIEMANN-PICK DISEASE TYPE C1, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, FOLATE MALABSORPTION, HEREDITARY, GM1-GANGLIOSIDOSIS, TYPE II, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, GREENBERG SKELETAL DYSPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, METHEMOGLOBINEMIA, TYPE IV, TRIMETHYLAMINURIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, ?THROMBOXANE SYNTHASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, GHOSAL HEMATODIAPHYSEAL SYNDROME, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, [BOMBAY PHENOTYPE], IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, FACTOR X DEFICIENCY, FACTOR VII DEFICIENCY, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, PELGER-HUET ANOMALY, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, OVALOCYTOSIS, SA TYPE, BLEEDING DISORDER, PLATELET-TYPE, 15, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, WOLFRAM SYNDROME 2, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, GLYCOGEN STORAGE DISEASE IA, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, NOONAN SYNDROME 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, INTRINSIC FACTOR DEFICIENCY, GLYCOGEN STORAGE DISEASE IC, LATHOSTEROLOSIS, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, IMMUNODEFICIENCY 46, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ABETALIPOPROTEINEMIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, HETEROTOPIA, PERIVENTRICULAR, MAY-HEGGLIN ANOMALY, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, LEUKEMIA, CHRONIC MYELOID, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE III, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, CEROID LIPOFUSCINOSIS, NEURONAL, 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, CRYOHYDROCYTOSIS, DIAMOND-BLACKFAN ANEMIA 7, HERMANSKY-PUDLAK SYNDROME 1, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, NETHERTON SYNDROME, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CHEDIAK-HIGASHI SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, DIAMOND-BLACKFAN ANEMIA 1, SECKEL SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, IMMUNODEFICIENCY 10, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, APOE, F2, HBB, CYB5A, CLN3, MMP1, FMO3, P2RY12, GP1BA, LBR, PGK1, FUT2, IKBKG, G6PC, TBXA2R, RPL5, GLB1, AGT, TREX1, GGCX, ITGA2B, APOB, G6PC3, STK11, F8, SLC37A4, LMAN1, ALG2, NPC1, SRP72, TFRC, BLOC1S6, FGG, CYB5R3, SMAD4, CYP7B1, CD81, SLC4A4, AMN, SRD5A3, KRAS, RUNX1, CBL, CYP4V2, FAS, LZTR1, MTTP, NME1, LYST, PIGT, NOS3, SLC40A1, CAD, SMAD9, RYR1, HLA-DRB1, EPHX1, SCARB2, BMPR1A, ITGA2, CALR, IL10, CCND1, JAK2, MUC1, VPS33B, TALDO1, TCIRG1, ABCG8, UMOD, TF, TMEM173, OCLN, ABCD4, ALG6, PIGM, SLC22A4, STAT3, SEC23B, ACD, F7, MYD88, KCNA5, PIGA, STIM1, PFKM, C3, KCNN4, ANK1, ADAR, VWF, CBS, SLC4A1, SC5D, FLNA, CASR, F5, VHL, BCS1L, CISD2, PRF1, FOXP3, TBXAS1, ITGB2, PLEC, TPI1, SLC11A2, DTNBP1, SPINK5, FASLG, PIEZO1, PEX19, CYCS, PLAU, CYP2C9, RPS10, PSTPIP1, RPS19, HK1, CUBN, CLDN1, ABCD3, BRAF, DDOST, ELANE, KIT, BCR, SLC7A7, VKORC1, SSR4, KNG1, SLC2A1, GIF, PRKCD, SLC46A1, P2RX1, DPM1, NPHP1, ABCG5, PTPN11, CXCR4, B4GALT1, KLF1, MYH9, TGFB1, STAT1, WAS, MT-CO2, HAMP, SOS1, CYP2A6, ALDOA, ACTN4, TINF2, NPM1, RPL11, CACNA1S, ALPL, DPAGT1, CD36, ACTN1, MTRR, F10, TMEM67, CD40, MPDU1, ADA, SERPINF2, VPS45, ATR, CD46, ITGB3, BMPR2, HSD3B7, TMEM199, SERPINE1, ALG13, MTOR

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, RETICULAR DYSGENESIS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, COPROPORPHYRIA, HARDEROPORPHYRIA, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, PELGER-HUET ANOMALY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SENGERS SYNDROME, ANEMIA, SIDEROBLASTIC, 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARTH SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GREENBERG SKELETAL DYSPLASIA, LYSINURIC PROTEIN INTOLERANCE, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, METHEMOGLOBINEMIA, TYPE IV, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, HYPOPHOSPHATASIA, INFANTILE, PYRUVATE KINASE DEFICIENCY, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, REVESZ SYNDROME, GLANZMANN THROMBASTHENIA, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, WOLFRAM SYNDROME 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, OROTIC ACIDURIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MEDULLARY CYSTIC KIDNEY DISEASE 1, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ANEMIA, SIDEROBLASTIC, 1, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CHEDIAK-HIGASHI SYNDROME, ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, HETEROTOPIA, PERIVENTRICULAR, COENZYME Q10 DEFICIENCY, PRIMARY, 1, SMITH-KINGSMORE SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, FANCONI ANEMIA, COMPLEMENTATION GROUP C

SSR4, AGK, LYST, APOB, PRKCD, DNAJC19, COX14, SMAD4, BCS1L, NME1, LBR, SFXN4, ABCB6, CYCS, PKLR, MUC1, FTL, ITGB3, TAZ, AGT, MTOR, CYB5A, MT-CO2, AK2, SCO1, NOS3, FLNA, CPOX, ABCB7, COX10, COQ2, REN, CCND1, TINF2, COX6B1, CISD2, FANCC, PEX19, SLC25A13, CD40, COX8A, FECH, SLC25A15, ACTN1, COX20, TMEM173, SLC25A38, ALPL, HSPA9, HK1, SLC7A7, ABCD3, UMPS, DDOST, CYB5R3, C10orf2, ALAS2, NHP2, MT-CO1

REVESZ SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, CAMURATI-ENGELMANN DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, ANEMIA, SIDEROBLASTIC, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, COMBINED FACTOR V AND VIII DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLANZMANN THROMBASTHENIA, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, SEBASTIAN SYNDROME, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, HYPOPHOSPHATASIA, INFANTILE, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, PROPIONICACIDEMIA, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FACTOR XII DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ACUTE MYELOID LEUKEMIA, M6 TYPE, GAUCHER DISEASE, TYPE IIIC, OROTIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, [GLYOXALASE II DEFICIENCY], VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, FAVISM, TRANSCOBALAMIN II DEFICIENCY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, PYRUVATE KINASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, GAUCHER DISEASE, TYPE I, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETICULAR DYSGENESIS, NEPHRONOPHTHISIS 1, JUVENILE, EMBERGER SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], PEROXISOME BIOGENESIS DISORDER 3B, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, METHYLMALONIC ACIDURIA CBLB TYPE, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, NOONAN SYNDROME 10, HEMOPHILIA B, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, INTRINSIC FACTOR DEFICIENCY, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, FACTOR V DEFICIENCY, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, ABETALIPOPROTEINEMIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MAY-HEGGLIN ANOMALY, GM1-GANGLIOSIDOSIS, TYPE III, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, ANEMIA, SIDEROBLASTIC, 1, FACTOR XIIIA DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ISOVALERIC ACIDEMIA, HETEROTOPIA, PERIVENTRICULAR, GAUCHER DISEASE, TYPE II, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, FANCONI ANEMIA, COMPLEMENTATION GROUP C, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, LMAN1, F2, HBB, APOB, CP, MMP1, GP1BA, F8, ACP2, FAS, PGK1, IKBKG, BMPR1A, DGUOK, RPL5, FTL, ITGB3, HAGH, AGT, PCCB, FLT3, AK2, GGCX, ITGA2B, REN, FGA, BAAT, RPS14, COX6B1, FH, NEU1, CYCS, SOS1, PRF1, GFI1B, FGG, GPX1, CD40, UMPS, CD81, F5, F13A1, KRAS, RUNX1, IL10, PLAU, LZTR1, ABCD3, NME1, HBA1, FGB, PKLR, CPOX, CAD, CIITA, LYRM7, HLA-DRB1, AMACR, SCARB2, ACTN1, ITGA2, ABCB7, CBL, CCND1, JAK2, MUC1, FANCC, CD36, SERPINF2, SMAD9, RYR1, ALAS2, FBXL4, PANK2, STAT3, F7, BMPR2, LARS, CALR, GLB1, SMPD1, IL2RA, MMAB, SMAD4, VWF, CBS, TCN2, CD40LG, CASR, HRG, VHL, COL4A1, MTOR, ITGB2, ELANE, MUT, PEX19, FECH, HSPA9, HK1, CUBN, MMAA, FARS2, MTTP, DDOST, EPOR, SSR4, F9, FLNA, GIF, GP9, PRKCD, KNG1, NPHP1, TGFB1, PTPN11, PEX12, FTH1, MYH9, STAT1, MT-CO2, G6PD, NOS3, YARS2, PCCA, CXCR4, ALDOA, ACTN4, TINF2, NPM1, GBA, GLA, PDGFRA, ALPL, TF, F12, DHFR, F10, FASLG, AP3B1, SARS2, ADA, IVD, ATR, COL7A1, C10orf2, SERPINE1, GATA2

FACTOR XIIIA DEFICIENCY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, BLEEDING DISORDER, PLATELET-TYPE, 15, GLYCOGEN STORAGE DISEASE XII, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CAMURATI-ENGELMANN DISEASE, FACTOR V DEFICIENCY, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, GLANZMANN THROMBASTHENIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, ATRANSFERRINEMIA, VON WILLIBRAND DISEASE, TYPE 3, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGA, SERPINF2, ALDOA, ACTN4, CALR, KNG1, TF, FGG, HRG, F13A1, F8, FGB, VWF, F2, F5, ITGA2B, TGFB1, SERPINE1, ACTN1

REVESZ SYNDROME, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CAMURATI-ENGELMANN DISEASE, NEPHRONOPHTHISIS 1, JUVENILE, ANEMIA, SIDEROBLASTIC, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, SENIOR-LOKEN SYNDROME 4, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, SEBASTIAN SYNDROME, SPHEROCYTOSIS, TYPE 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, DIAMOND-BLACKFAN ANEMIA 9, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, SPHEROCYTOSIS, TYPE 3, NEPHRONOPHTHISIS 4, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, DYSKERATOSIS CONGENITA, X-LINKED, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, ?DIAMOND-BLACKFAN ANEMIA 11, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, CHOREOACANTHOCYTOSIS, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, HEREDITARY PYROPOIKILOCYTOSIS, EMBERGER SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, POLYCYTHEMIA VERA, SOMATIC, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, FUMARASE DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 15, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, SENIOR-LOKEN SYNDROME-1, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, NIEMANN-PICK DISEASE, TYPE A, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, INTRINSIC FACTOR DEFICIENCY, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ELLIPTOCYTOSIS-2, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THROMBOCYTOPENIA 4, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, CEROID LIPOFUSCINOSIS, NEURONAL, 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DIAMOND-BLACKFAN ANEMIA 7, HERMANSKY-PUDLAK SYNDROME 1, FACTOR XIIIA DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, ?BLEEDING DISORDER, PLATELET-TYPE, 18, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHEDIAK-HIGASHI SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, HETEROTOPIA, PERIVENTRICULAR, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

CA2, APOE, F2, HBB, GPI, CLN3, PICALM, MT-CO2, ATRX, FERMT3, CIITA, TBXA2R, RPL5, TUBB1, ALDOA, AGT, TREX1, SLC11A2, NPHP4, ITGA2B, RASGRP2, FGA, STK11, ENG, TERT, FH, SPTA1, MMP1, NEU1, CYCS, BLOC1S6, GFI1B, PRKACG, CD81, KRAS, RUNX1, NME1, LYST, PKLR, THRA, CAD, IKBKG, RYR1, HLA-DRB1, CRIPT, BMPR1A, ITGA2, CPOX, CBL, CCND1, JAK2, ACAD9, MUC1, VPS33B, PFKM, AK1, FTL, UMOD, TMEM173, RPS10, STAT3, BRAF, ACD, CUBN, MYD88, KCNA5, ITGB3, DKC1, SMPD1, RPS14, SMAD4, RPS28, FGB, SMAD9, STAT1, FLNA, CASR, NUP214, VHL, KIF1B, FOXP3, MTOR, ITGB2, DTNBP1, FASLG, SH3GL1, PSTPIP1, HSPA9, HK1, NF1, F13A1, GCLC, ACVRL1, DDOST, KIT, BCR, OCLN, SSR4, KNG1, SLC2A1, GIF, PRKCD, VPS13A, P2RX1, CHIC2, NPHP1, TGFB1, PTPN11, SOS2, TNFAIP3, KLF1, MYH9, REN, WAS, TBCE, FLT3, NOS3, SOS1, FGFR2, ACTN4, TINF2, TNFSF11, NPM1, RPL11, FTH1, PDGFRA, CACNA1S, RPL26, STX11, CALR, PEX19, ACTN1, TMEM67, ANK1, AP3B1, NHP2, VPS45, ATR, BMPR2, C10orf2, SERPINE1, GATA2

{SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, RHEUMATOID ARTHRITIS

HLA-DQB1, IL10, HLA-DRB1, HLA-DQA1

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, SEA-BLUE HISTIOCYTE DISEASE, ABETALIPOPROTEINEMIA, POLYCYTHEMIA VERA, SOMATIC, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, GLANZMANN THROMBASTHENIA, PLATELET GLYCOPROTEIN IV DEFICIENCY, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, HERMANSKY-PUDLAK SYNDROME 1, HYPERPARATHYROIDISM, NEONATAL, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, INFANTILE, QUEBEC PLATELET DISORDER, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, EPSTEIN SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HERMANSKY-PUDLAK SYNDROME 7, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

APOE, FLNA, CBL, REN, RUNX1, IL10, PLAU, CD40, KNG1, MYD88, CD36, NOS3, CD40LG, ITGB3, MYH9, AGT, TGFB1, MTOR, GPI, FOXP3, ACTN1, ITGA2, ITGB2, ITGA2B, APOB, FGA, FGFR2, F2, DTNBP1, THRA, ENG, JAK2, STAT1, ALPL, MMP1, CALR, C3, SERPINE1, FASLG, CASR, MTTP, STAT3, PTPN11, CD3G, CD81

{SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, RHEUMATOID ARTHRITIS

HLA-DRB1, HLA-DQB1, HLA-DQA1

REVESZ SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, CAMURATI-ENGELMANN DISEASE, ANEMIA, SIDEROBLASTIC, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, COMBINED FACTOR V AND VIII DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLANZMANN THROMBASTHENIA, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, SEBASTIAN SYNDROME, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, PROPIONICACIDEMIA, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, FACTOR XII DEFICIENCY, ACUTE MYELOID LEUKEMIA, M6 TYPE, GAUCHER DISEASE, TYPE IIIC, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, [GLYOXALASE II DEFICIENCY], VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, FAVISM, TRANSCOBALAMIN II DEFICIENCY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, PYRUVATE KINASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, GAUCHER DISEASE, TYPE I, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, EMBERGER SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], PEROXISOME BIOGENESIS DISORDER 3B, WHIM SYNDROME, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, METHYLMALONIC ACIDURIA CBLB TYPE, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, NOONAN SYNDROME 10, HEMOPHILIA B, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, INTRINSIC FACTOR DEFICIENCY, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, FACTOR V DEFICIENCY, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, ABETALIPOPROTEINEMIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MAY-HEGGLIN ANOMALY, GM1-GANGLIOSIDOSIS, TYPE III, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, ANEMIA, SIDEROBLASTIC, 1, FACTOR XIIIA DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ISOVALERIC ACIDEMIA, HETEROTOPIA, PERIVENTRICULAR, GAUCHER DISEASE, TYPE II, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, FANCONI ANEMIA, COMPLEMENTATION GROUP C, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, LMAN1, F2, HBB, APOB, CP, MMP1, GP1BA, F8, ACP2, FAS, IKBKG, BMPR1A, DGUOK, RPL5, FTL, ITGB3, HAGH, AGT, PCCB, FLT3, GGCX, ITGA2B, REN, FGA, BAAT, RPS14, FH, NEU1, SOS1, PRF1, GFI1B, FGG, GPX1, CD40, UMPS, F5, F13A1, RUNX1, IL10, PLAU, LZTR1, ABCD3, F9, HBA1, FGB, PKLR, CPOX, CAD, CIITA, LYRM7, HLA-DRB1, AMACR, SCARB2, ACTN1, ITGA2, ABCB7, CBL, CCND1, JAK2, MUC1, PDGFRA, CD36, SMAD9, RYR1, ALAS2, GP9, STAT3, F7, BMPR2, LARS, CALR, GLB1, SMPD1, IL2RA, MMAB, SMAD4, VWF, CBS, F12, CD40LG, CASR, HRG, VHL, COL4A1, MTOR, ITGB2, ELANE, MUT, PEX19, EPOR, FECH, HSPA9, HK1, CUBN, MMAA, FARS2, MTTP, DDOST, SERPINF2, SSR4, FLNA, GIF, PRKCD, KNG1, TGFB1, PTPN11, PEX12, FTH1, MYH9, STAT1, MT-CO2, G6PD, NOS3, YARS2, PCCA, CXCR4, ALDOA, ACTN4, TINF2, NPM1, GBA, GLA, FANCC, TF, TCN2, DHFR, F10, FASLG, AP3B1, SARS2, ADA, IVD, ATR, COL7A1, C10orf2, SERPINE1, GATA2

REVESZ SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ANEMIA, SIDEROBLASTIC, 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BARTH SYNDROME, LYSINURIC PROTEIN INTOLERANCE, BONE MARROW FAILURE SYNDROME 1, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, WOLFRAM SYNDROME 2, GLANZMANN THROMBASTHENIA, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, FECHTNER SYNDROME, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, PROPIONICACIDEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ACUTE MYELOID LEUKEMIA, M6 TYPE, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, BARTTER SYNDROME, TYPE 2, [GLYOXALASE II DEFICIENCY], VON WILLEBRAND DISEASE, TYPE 1, SECKEL SYNDROME 1, GREENBERG SKELETAL DYSPLASIA, METHEMOGLOBINEMIA, TYPE IV, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PYRUVATE KINASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, BLEEDING DISORDER, PLATELET-TYPE, 15, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, ?DIAMOND-BLACKFAN ANEMIA 11, HARP SYNDROME, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, FANCONI ANEMIA, COMPLEMENTATION GROUP C, RETICULAR DYSGENESIS, ?INFANTILE LIVER FAILURE SYNDROME 1, PELGER-HUET ANOMALY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, FUMARASE DEFICIENCY, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, NOONAN SYNDROME 10, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, SENGERS SYNDROME, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, COENZYME Q10 DEFICIENCY, PRIMARY, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, COPROPORPHYRIA, HARDEROPORPHYRIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MAY-HEGGLIN ANOMALY, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), ANEMIA, SIDEROBLASTIC, 1, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ISOVALERIC ACIDEMIA, HETEROTOPIA, PERIVENTRICULAR, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOB, DNAJC19, F8, LBR, PGK1, ACTN1, DGUOK, MUC1, FTL, YARS2, HAGH, AGT, PCCB, AK2, COX10, COX6B1, FH, AGK, CYCS, COX20, SLC25A38, GPX1, CD40, UMPS, COX8A, PLEC, FAS, LZTR1, NME1, SFXN4, PKLR, CPOX, CCND1, CAD, SRP72, LYRM7, CYB5A, KCNJ1, ABCB7, RPL5, SLC25A13, FANCC, PFKM, SLC25A15, TMEM173, SLC7A7, FBXL4, COX14, PANK2, STAT3, CYB5R3, RPL26, MT-CO1, LARS, ITGB3, REN, RPS14, MMAB, SMAD4, VWF, SMAD9, STAT1, TAZ, BCS1L, BRCA1, MTOR, COQ2, MUT, EPOR, FECH, HSPA9, HK1, MMAA, FARS2, ABCD3, DDOST, NHP2, SSR4, FLNA, PRKCD, KNG1, ABCB6, FTH1, MYH9, MT-CO2, SCO1, NOS3, PCCA, TINF2, COX4I2, ALPL, PEX19, CISD2, SARS2, IVD, ATR, C10orf2, ALAS2, DHFR, RYR1

SEA-BLUE HISTIOCYTE DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, QUEBEC PLATELET DISORDER, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, BLEEDING DISORDER, PLATELET-TYPE, 11, [BLOOD GROUP, LUTHERAN NULL], VON WILLEBRAND DISEASE, TYPE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, WHIM SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IVIC SYNDROME, GLANZMANN THROMBASTHENIA, PLATELET GLYCOPROTEIN IV DEFICIENCY, LEUKEMIA, CHRONIC MYELOID, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPOBETALIPOPROTEINEMIA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, LYMPHOPROLIFERATIVE SYNDROME 2, LEUKOCYTE ADHESION DEFICIENCY, IMMUNODEFICIENCY 46, MEDULLARY CYSTIC KIDNEY DISEASE 1, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, THROMBOCYTHEMIA 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FASLG, APOE, CALR, ITGB3, APOB, IL2RA, CBL, PLAU, PRF1, KNG1, FAS, FGB, TGFB1, CD36, NOS3, CXCR4, CD40LG, MUC1, F2, AGT, NUP214, HLA-DRB1, CD27, P2RY12, FLT3, FOXP3, PTPN11, ITGA2, ITGB2, BCAM, ITGA2B, CD244, FGA, FGFR2, CCND1, ENG, RUNX1, JAK2, IL10, SALL4, STAT1, PDGFRA, B4GALT1, GP6, C3, CTLA4, BCR, TFRC, KRAS, FGG, SH2D1A, CD40, ADA, STAT3, FLNA, KIT, CD81, VWF

?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, REVESZ SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3

ACD, TERT, CTC1, TINF2

?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, REVESZ SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3

ACD, TERT, CTC1, TINF2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BENT BONE DYSPLASIA SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ELLIPTOCYTOSIS-2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, DIAMOND-BLACKFAN ANEMIA 13, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 4, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 8, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DIAMOND-BLACKFAN ANEMIA 6, HETEROTOPIA, PERIVENTRICULAR, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, PLATELET GLYCOPROTEIN IV DEFICIENCY, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DIAMOND-BLACKFAN ANEMIA 9, ERYTHROCYTOSIS, FAMILIAL, 2, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, WISKOTT-ALDRICH SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SEA-BLUE HISTIOCYTE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

APOE, GFI1B, CALR, TNFSF11, SPTA1, APOB, RPS14, CBL, PLAU, SMAD4, KNG1, WAS, PIGT, TGFB1, CYCS, NOS3, FLNA, RPL5, ITGA2B, KRAS, ITGB3, AGT, CLDN1, NPM1, VHL, CD46, MMP1, THBD, KIF1B, ACTN1, ITGA2, ITGB2, ARHGAP26, C3AR1, PLEC, SOS1, FGA, FGFR2, ACTN4, HSPA9, CCND1, ENG, PRKCD, JAK2, STAT1, RPS29, RPS17, F2, PTPN11, CD36, BCR, RPS10, CD81, RPS19, LPP, RPS7, CD59, STAT3, BRAF, SCARB2, KIT, SERPINE1, NUP214

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BENT BONE DYSPLASIA SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPOBETALIPOPROTEINEMIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, DIAMOND-BLACKFAN ANEMIA 13, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 4, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 8, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DIAMOND-BLACKFAN ANEMIA 6, DIAMOND-BLACKFAN ANEMIA 1, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, PLATELET GLYCOPROTEIN IV DEFICIENCY, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DIAMOND-BLACKFAN ANEMIA 9, ERYTHROCYTOSIS, FAMILIAL, 2, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, WISKOTT-ALDRICH SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SEA-BLUE HISTIOCYTE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HETEROTOPIA, PERIVENTRICULAR, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

APOE, GFI1B, TNFSF11, SPTA1, APOB, RPS14, CBL, PLAU, SMAD4, PTPN11, WAS, PIGT, TGFB1, CYCS, NOS3, FLNA, RPL5, ITGA2B, KRAS, ITGB3, AGT, CLDN1, NPM1, VHL, CD46, THBD, KIF1B, ACTN1, ITGA2, ITGB2, ARHGAP26, MMP1, PLEC, SOS1, FGA, FGFR2, ACTN4, HSPA9, CCND1, ENG, PRKCD, JAK2, STAT1, RPS29, RPS17, F2, CALR, CD36, BCR, RPS10, CD81, RPS19, LPP, RPS7, CD59, STAT3, BRAF, SCARB2, KIT, SERPINE1, NUP214

REVESZ SYNDROME, RETICULAR DYSGENESIS, CAMURATI-ENGELMANN DISEASE, NEPHRONOPHTHISIS 1, JUVENILE, ANEMIA, SIDEROBLASTIC, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SPHEROCYTOSIS, TYPE 4, SENIOR-LOKEN SYNDROME 4, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, INTERSTITIAL LUNG AND LIVER DISEASE, GLANZMANN THROMBASTHENIA, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SPHEROCYTOSIS, TYPE 1, GLYCOGEN STORAGE DISEASE XII, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, DIAMOND-BLACKFAN ANEMIA 9, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, NEPHRONOPHTHISIS 4, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, INCONTINENTIA PIGMENTI, FOLATE MALABSORPTION, HEREDITARY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, BLEEDING DISORDER, PLATELET-TYPE, 15, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, SPHEROCYTOSIS, TYPE 2, DIAMOND-BLACKFAN ANEMIA 6, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, DYSKERATOSIS CONGENITA, X-LINKED, KENNY-CAFFEY SYNDROME, TYPE 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 10, HERMANSKY-PUDLAK SYNDROME 2, BLEEDING DISORDER, PLATELET-TYPE, 17, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, HEREDITARY PYROPOIKILOCYTOSIS, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, PROLIDASE DEFICIENCY, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, OVALOCYTOSIS, SA TYPE, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, SENIOR-LOKEN SYNDROME-1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, CRYOHYDROCYTOSIS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ELLIPTOCYTOSIS-2, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, HYPERPARATHYROIDISM, NEONATAL, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, COPROPORPHYRIA, HARDEROPORPHYRIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, VON WILLEBRAND DISEASE, TYPE 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MAY-HEGGLIN ANOMALY, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, CHEDIAK-HIGASHI SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, HETEROTOPIA, PERIVENTRICULAR, SECKEL SYNDROME 1, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, RPS26, APOB, IFIH1, CIITA, TBXA2R, RPL5, TUBB1, F2, AGT, AK2, NPHP4, ITGA2B, SPTA1, GATA2, CYCS, SOS1, TFRC, BLOC1S6, GFI1B, CD40, UMPS, FANCD2, ATRX, KRAS, LZTR1, LYST, NOS3, CPOX, IKBKG, MTOR, ACTN1, ITGA2, CBL, CCND1, JAK2, STAT1, PFKM, SLC4A1, RPS10, FANCA, LPP, SH2D1A, WAS, RFXANK, ACD, MYD88, GATA1, ITGB3, DKC1, SMAD4, RPS28, VWF, SMAD9, CD40LG, FLNA, CASR, VHL, ITGB2, PLEC, TPI1, PHGDH, PSTPIP1, HSPA9, NFKBIL1, KIT, BCR, FAH, SLC2A1, PRKCD, SLC46A1, KNG1, NPHP1, TGFB1, PEPD, FTH1, MYH9, ERCC4, STAT3, TBCE, PTPN11, ARHGAP26, ALDOA, ACTN4, TINF2, MARS, PUS1, PNP, TMEM67, ANK1, AP3B1, OCLN, VPS45, ATR, SPTB, BMPR2, C10orf2, MTRR, RYR1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, EMBERGER SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, QUEBEC PLATELET DISORDER, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, OVALOCYTOSIS, SA TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 3, PYRUVATE KINASE DEFICIENCY, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], IMMUNODEFICIENCY 21, INCONTINENTIA PIGMENTI, SPHEROCYTOSIS, TYPE 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, CYANOSIS, TRANSIENT NEONATAL, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SEA-BLUE HISTIOCYTE DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DIAMOND-BLACKFAN ANEMIA 6, GLANZMANN THROMBASTHENIA, CRYOHYDROCYTOSIS, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, ATRANSFERRINEMIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, CAMURATI-ENGELMANN DISEASE, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, RENAL TUBULAR ACIDOSIS, DISTAL, AR, HYPERPARATHYROIDISM, NEONATAL, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, IMMUNODEFICIENCY 46, SICKLE CELL ANEMIA, FACTOR XIIIA DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DIAMOND-BLACKFAN ANEMIA 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, FACTOR V DEFICIENCY, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

APOE, C3AR1, F5, F2, HBB, APOB, CFHR3, CP, PLAU, CD59, HBG2, KNG1, HBA1, FAS, FGB, IKBKG, SLC4A1, PKLR, CD40LG, SLC2A1, CASR, AGT, TGFB1, HRG, MT-CO2, CFI, NOS3, C3, ITGA2B, CFB, CALR, FGA, ACTN4, CCND1, F8, ENG, PRKCD, JAK2, RPL5, MMP1, TF, CYCS, CUBN, TFRC, RPS19, CFHR1, SERPINF2, F13A1, CD40, FGG, CFH, IL2RA, PTPN11, SERPINE1, GATA2

FACTOR V DEFICIENCY, CAMURATI-ENGELMANN DISEASE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, SPHEROCYTOSIS, TYPE 4, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, COMBINED FACTOR V AND VIII DEFICIENCY, INTERSTITIAL LUNG AND LIVER DISEASE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, GLANZMANN THROMBASTHENIA, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SICKLE CELL ANEMIA, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ACUTE MYELOID LEUKEMIA, M6 TYPE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, VON WILLEBRAND DISEASE, TYPE 1, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, BLEEDING DISORDER, PLATELET-TYPE, 15, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, OVALOCYTOSIS, SA TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, WHIM SYNDROME, PLATELET GLYCOPROTEIN IV DEFICIENCY, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CRYOHYDROCYTOSIS, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MAY-HEGGLIN ANOMALY, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, NEPHRONOPHTHISIS 11, QUEBEC PLATELET DISORDER, HERMANSKY-PUDLAK SYNDROME 1, FACTOR XIIIA DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, SEA-BLUE HISTIOCYTE DISEASE, HERMANSKY-PUDLAK SYNDROME 7, HETEROTOPIA, PERIVENTRICULAR, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, KCNA5, APOE, F2, HBB, APOB, GP1BA, CIITA, ACTN1, RPL5, ALDOA, AGT, ITGA2B, FGA, RPS14, LMAN1, TFRC, FGG, HLA-DQA1, F5, CBL, PLAU, IRF5, HBA1, VWF, NOS3, MYD88, GATA2, SCARB2, CALR, IL10, CCND1, JAK2, HLA-DRB1, VPS33B, TCIRG1, SLC4A1, TMEM173, WAS, SEC23B, BMPR2, GATA1, FASLG, PFKM, ITGB3, IL2RA, SMAD4, FGB, C3, CD40LG, CASR, HRG, KIF1B, ITGB2, ELANE, DTNBP1, MUT, TMEM67, EPOR, PSTPIP1, F13A1, DDOST, SERPINF2, AIRE, FLNA, PRKCD, KNG1, CLDN1, PTPN11, CXCR4, KLF1, MYH9, TGFB1, STAT1, STAT3, F8, PICALM, SOS1, ACTN4, MARS, PDGFRA, STX11, TF, CD36, CTLA4, HLA-DQB1, AP3B1, ADA, OCLN, VPS45, ATR, CD46, SERPINE1, MTOR

REVESZ SYNDROME, FACTOR V DEFICIENCY, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HERMANSKY-PUDLAK SYNDROME 7, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FAVISM, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, BONE MARROW FAILURE SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, COMBINED FACTOR V AND VIII DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, WOLFRAM SYNDROME 2, GLANZMANN THROMBASTHENIA, FECHTNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, HYPOPHOSPHATASIA, INFANTILE, PORENCEPHALY 1, STORMORKEN SYNDROME, ATRANSFERRINEMIA, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, GREENBERG SKELETAL DYSPLASIA, METHEMOGLOBINEMIA, TYPE IV, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, ?THROMBOXANE SYNTHASE DEFICIENCY, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, GHOSAL HEMATODIAPHYSEAL SYNDROME, DIAMOND-BLACKFAN ANEMIA 9, PRIMARY PULMONARY HYPERTENSION, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, [BOMBAY PHENOTYPE], IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, NEPHRONOPHTHISIS 1, JUVENILE, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, PELGER-HUET ANOMALY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, NOONAN SYNDROME 4, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, GLYCOGEN STORAGE DISEASE IA, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, HEMOPHILIA B, HEMOCHROMATOSIS, TYPE 4, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, WISKOTT-ALDRICH SYNDROME, HYPERPARATHYROIDISM, NEONATAL, GLYCOGEN STORAGE DISEASE IC, LATHOSTEROLOSIS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, TRIMETHYLAMINURIA, BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, ABETALIPOPROTEINEMIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HETEROTOPIA, PERIVENTRICULAR, MAY-HEGGLIN ANOMALY, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, NEPHRONOPHTHISIS 11, CEROID LIPOFUSCINOSIS, NEURONAL, 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, HERMANSKY-PUDLAK SYNDROME 1, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, NETHERTON SYNDROME, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CHEDIAK-HIGASHI SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, DIAMOND-BLACKFAN ANEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, IMMUNODEFICIENCY 10, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, F2, HBB, CYB5A, CLN3, FMO3, F8, GP1BA, LBR, PGK1, FUT2, IKBKG, G6PC, ACTN1, RPL5, ALDOA, AGT, G6PD, TREX1, STT3B, GGCX, ITGA2B, APOB, G6PC3, FGA, STK11, SLC37A4, LMAN1, ALG2, MPO, CYCS, GFI1B, CYB5R3, ADAR, PIGM, HLA-DQA1, CD81, SRD5A3, KRAS, RUNX1, CBL, CYP4V2, LZTR1, HAMP, NME1, LYST, KNG1, PIGT, NOS3, CPOX, CIITA, RYR1, HLA-DRB1, EPHX1, COL7A1, BMPR1A, ITGA2, IL10, CCND1, SC5D, TMEM173, ABCD4, ALG6, GP9, STAT3, SEC23B, SPATA5, ACD, F7, MYD88, KCNA5, FASLG, STIM1, TF, ITGB3, REN, SMAD4, COL4A1, VWF, CBS, SRP72, CD40LG, CASR, F5, VHL, BCS1L, CISD2, FOXP3, F10, ITGB2, DTNBP1, TMEM67, PIEZO1, PEX19, CD40, PLAU, CYP2C9, RPS10, PSTPIP1, RPS19, PIGA, MTTP, DDOST, OCLN, VKORC1, SSR4, F9, FLNA, SLC40A1, SPINK5, DPM1, NPHP1, TGFB1, PTPN11, CXCR4, MYH9, STAT1, WAS, MT-CO2, FLT3, PKLR, SOS1, CYP2A6, TINF2, NPM1, RPL11, PDGFRA, ALPL, DPAGT1, CD36, TBXAS1, HLA-DQB1, AP3B1, MPDU1, CALR, SERPINF2, CYP7B1, BMPR2, HSD3B7, SERPINE1, ALG13, MTOR

FACTOR V DEFICIENCY, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, SPHEROCYTOSIS, TYPE 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, WILSON DISEASE, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, BONE MARROW FAILURE SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 6, COMBINED FACTOR V AND VIII DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MEDULLARY CYSTIC KIDNEY DISEASE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, GAUCHER DISEASE, TYPE IIIC, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, GM1-GANGLIOSIDOSIS, TYPE II, FAVISM, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEMOCHROMATOSIS, TYPE 2B, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ATRANSFERRINEMIA, NOONAN SYNDROME 9, NEUTROPENIA, CYCLIC, CATARACT 13 WITH ADULT I PHENOTYPE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, YUNIS-VARON SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, [BOMBAY PHENOTYPE], IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, BLEEDING DISORDER, PLATELET-TYPE, 17, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, GAUCHER DISEASE, TYPE I, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, PROLIDASE DEFICIENCY, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, NIEMANN-PICK DISEASE, TYPE A, OVALOCYTOSIS, SA TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, WHIM SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, CRYOHYDROCYTOSIS, GAUCHER DISEASE, TYPE III, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, WISKOTT-ALDRICH SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, IMMUNODEFICIENCY 46, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, HEMOPHILIA B, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, LEUKEMIA, CHRONIC MYELOID, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE III, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, CEROID LIPOFUSCINOSIS, NEURONAL, 3, QUEBEC PLATELET DISORDER, HAMAMY SYNDROME, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, HETEROTOPIA, PERIVENTRICULAR, GAUCHER DISEASE, TYPE II, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, NEU1, F2, IRX5, MMP1, F8, F5, PIGT, FUT2, CIITA, F9, RPL5, SLC35A1, AGT, GGCX, SMPD1, FGA, STK11, LMAN1, COG6, TFRC, GFI1B, SMAD4, CD40, FUT1, HLA-DQA1, CD81, FIG4, APOB, GP1BA, KRAS, RUNX1, IL10, PLAU, NME1, KNG1, NOS3, IKBKG, MTOR, HLA-DRB1, MGAT2, ACTN1, CBL, CCND1, MUC1, VPS33B, SLC35C1, C3, STAT3, SEC23B, SPATA5, TMEM165, SOS2, CALR, GLB1, SLC35A2, ADAR, RPS28, VWF, CBS, SLC4A1, CD40LG, FLNA, CASR, FOXP3, ITGB2, ELANE, SLC11A2, FASLG, COG4, PSTPIP1, ATP7B, HAMP, ACVRL1, DDOST, TPI1, BCR, AIRE, NRAS, IRF5, SLC2A1, VPS45, GCNT2, CD46, CHIC2, TGFB1, PEPD, CXCR4, B4GALT1, AP3B1, STAT1, WAS, MT-CO2, G6PD, PICALM, F7, FGFR2, GBA, PDGFRA, STX11, TF, F10, HLA-DQB1, OCLN, SRP72, CLN3, MYD88, SERPINE1

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, EMBERGER SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, NIEMANN-PICK DISEASE, TYPE A, INCONTINENTIA PIGMENTI, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, GAUCHER DISEASE, PERINATAL LETHAL, NOONAN SYNDROME 4, NIEMANN-PICK DISEASE TYPE C1, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LYSINURIC PROTEIN INTOLERANCE, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, MAY-HEGGLIN ANOMALY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, SEBASTIAN SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 3, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, POLYCYTHEMIA VERA, SOMATIC, TRANSCOBALAMIN II DEFICIENCY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SEA-BLUE HISTIOCYTE DISEASE, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE III, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, HYPOBETALIPOPROTEINEMIA, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, FECHTNER SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, CAMURATI-ENGELMANN DISEASE, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, EPSTEIN SYNDROME, INTRINSIC FACTOR DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, IMMUNODEFICIENCY 46, WHIM SYNDROME, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GAUCHER DISEASE, TYPE I, GLYCOGEN STORAGE DISEASE VII, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GAUCHER DISEASE, TYPE II, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, GAUCHER DISEASE, TYPE IIIC, THROMBOCYTHEMIA 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, SMITH-KINGSMORE SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II

HLA-DQA1, FASLG, APOE, TF, GLB1, HBB, SLC29A3, SMPD1, RPS14, SSR4, PICALM, SMAD4, IRF5, ACP2, HBA1, IKBKG, NOS3, CXCR4, CD40LG, CP, F2, AP3B1, AGT, TGFB1, MTOR, HLA-DRB1, STAT3, F8, TCIRG1, GIF, SCARB2, FOXP3, APOB, SLC11A2, SOS1, SLC35A2, ELANE, CALR, FGA, CBL, PSMB8, CLCN7, CCND1, GBA, IL2RA, JAK2, GLA, STAT1, VPS33B, RUNX1, HLA-DQB1, LAMTOR2, PFKM, GATA2, TCN2, CUBN, NPC1, TFRC, ALPL, MYH9, KRAS, FGG, SLC7A7, NEU1, CLN3, LMBRD1, SPATA5, TMEM165, HRG, MYD88

L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CAMURATI-ENGELMANN DISEASE, ANEMIA, SIDEROBLASTIC, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, SPHEROCYTOSIS, TYPE 4, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SICKLE CELL ANEMIA, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, NIEMANN-PICK DISEASE TYPE C1, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, GM1-GANGLIOSIDOSIS, TYPE II, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, PEUTZ-JEGHERS SYNDROME, ATRANSFERRINEMIA, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, HERMANSKY-PUDLAK SYNDROME 2, BLEEDING DISORDER, PLATELET-TYPE, 17, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, OVALOCYTOSIS, SA TYPE, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CRYOHYDROCYTOSIS, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, FANCONI ANEMIA, COMPLEMENTATION GROUP L, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE III, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, IMMUNODEFICIENCY 46, NETHERTON SYNDROME, KABUKI SYNDROME 1, CHEDIAK-HIGASHI SYNDROME, HETEROTOPIA, PERIVENTRICULAR, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME

CA2, KCNA5, HBB, APOB, MMP1, ATRX, FAS, CIITA, ALG2, TBXA2R, MUC1, FTL, ITGB3, AGT, SLC11A2, ITGA2B, STK11, GATA2, CYCS, NPC1, TFRC, BLOC1S6, GFI1B, CD40, UMPS, PRKACG, KRAS, CBL, PLAU, PTPN22, NME1, HBA1, NOS3, THRA, IKBKG, RYR1, HLA-DRB1, ACTN1, ITGA2, IL10, CCND1, JAK2, STAT1, VPS33B, SLC4A1, TMEM173, ALPL, FANCA, LPP, STAT3, SEC23B, SOS2, GATA1, CALR, GLB1, SMAD4, CD40LG, CASR, FOXP3, PSTPIP1, HSPA9, SPINK5, BCR, KNG1, FLNA, SLC40A1, PRKCD, DPM1, TGFB1, LYST, PTPN11, FTH1, KMT2D, AP3B1, WAS, MT-CO2, PICALM, SOS1, ACTN4, STX11, TF, PEX19, CTLA4, FANCL, FASLG, PIGA, ATR, MYD88, BMPR2, C10orf2, SERPINE1, MTOR

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, SEA-BLUE HISTIOCYTE DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, OVALOCYTOSIS, SA TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, SPHEROCYTOSIS, TYPE 4, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, IMMUNODEFICIENCY, COMMON VARIABLE, 6, CRYOHYDROCYTOSIS, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, HYPOBETALIPOPROTEINEMIA, CAMURATI-ENGELMANN DISEASE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, RENAL TUBULAR ACIDOSIS, DISTAL, AR, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY 46, FACTOR X DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HETEROTOPIA, PERIVENTRICULAR, SMITH-KINGSMORE SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE

APOE, FLNA, APOB, RUNX1, CD59, HAMP, IRF5, FAS, MYD88, SLC4A1, BMPR1A, STAT1, ALPL, TGFB1, MTOR, HLA-DRB1, CD46, MT-CO2, SERPINE1, PTPN11, ITGB2, IL10, TFRC, C3, UMOD, F10, PSTPIP1, ANK1, SMAD4, CD40, STAT3, CD81, BMPR2

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, CAMURATI-ENGELMANN DISEASE, NIEMANN-PICK DISEASE, TYPE A, THROMBOCYTHEMIA 3, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, NETHERTON SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NIEMANN-PICK DISEASE, TYPE B, QUEBEC PLATELET DISORDER, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MYELOPEROXIDASE DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HERMANSKY-PUDLAK SYNDROME 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOREOACANTHOCYTOSIS, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

KCNA5, SSR4, BRCA2, ITGB3, SMPD1, VPS13A, FGB, CIITA, VWF, NOS3, HLA-DRB1, F2, AP3B1, AGT, TGFB1, TBXA2R, FLNA, ITGB2, REN, ELANE, FGA, MMP1, CCND1, ENG, JAK2, VPS33B, PLAU, CALR, ACTN1, MPO, SERPINE1, PICALM, FGG, SPINK5, STAT3, PRKACG, PTPN11, KIT, DHFR, MYD88

NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HEREDITARY PYROPOIKILOCYTOSIS, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ANEMIA, SIDEROBLASTIC, 4, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BENT BONE DYSPLASIA SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ELLIPTOCYTOSIS-2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MAY-HEGGLIN ANOMALY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 4, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, DIAMOND-BLACKFAN ANEMIA 8, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SENIOR-LOKEN SYNDROME-1, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DIAMOND-BLACKFAN ANEMIA 6, HETEROTOPIA, PERIVENTRICULAR, DIAMOND-BLACKFAN ANEMIA 13, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, PLATELET GLYCOPROTEIN IV DEFICIENCY, LEUKEMIA, CHRONIC MYELOID, SOMATIC, GLANZMANN THROMBASTHENIA, ERYTHROCYTOSIS, FAMILIAL, 2, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, NEPHRONOPHTHISIS 11, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, WISKOTT-ALDRICH SYNDROME, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPSTEIN SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, HERMANSKY-PUDLAK SYNDROME 2, SEA-BLUE HISTIOCYTE DISEASE, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 1, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, DIAMOND-BLACKFAN ANEMIA 9, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, SEBASTIAN SYNDROME

APOE, GFI1B, CALR, TNFSF11, SPTA1, APOB, RPS14, CBL, PLAU, CD46, SMAD4, KNG1, C3AR1, PIGT, TGFB1, NPHP1, NOS3, FLNA, RPL5, ITGA2B, KRAS, ITGB3, AP3B1, AGT, CLDN1, NUP214, VHL, WAS, THBD, KIF1B, ACTN1, ITGA2, ITGB2, ARHGAP26, MMP1, PLEC, SOS1, FGA, FGFR2, ACTN4, HSPA9, CCND1, ENG, PRKCD, JAK2, STAT1, B4GALT1, RPS29, RPS17, CYCS, F2, PTPN11, CD36, BCR, TMEM67, RPS10, CD81, RPS19, MYH9, LPP, RPS7, CD59, STAT3, BRAF, SCARB2, KIT, SERPINE1, NPM1

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OVALOCYTOSIS, SA TYPE, BLEEDING DISORDER, PLATELET-TYPE, 15, EMBERGER SYNDROME, WISKOTT-ALDRICH SYNDROME, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MAY-HEGGLIN ANOMALY, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PLATELET GLYCOPROTEIN IV DEFICIENCY, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, COMBINED FACTOR V AND VIII DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SEA-BLUE HISTIOCYTE DISEASE, POLYCYTHEMIA VERA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, GLANZMANN THROMBASTHENIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, CRYOHYDROCYTOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, HYPOBETALIPOPROTEINEMIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, HERMANSKY-PUDLAK SYNDROME 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, SEBASTIAN SYNDROME, HYPERPARATHYROIDISM, NEONATAL, SPHEROCYTOSIS, TYPE 4, NEPHRONOPHTHISIS 11, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, GLYCOGEN STORAGE DISEASE XII, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, HERMANSKY-PUDLAK SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, HERMANSKY-PUDLAK SYNDROME 7, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, EPSTEIN SYNDROME, HETEROTOPIA, PERIVENTRICULAR, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 3, GLYCOGEN STORAGE DISEASE VII, SMITH-KINGSMORE SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

KCNA5, CA2, APOE, IRF5, ALDOA, APOB, RPS14, CBL, PLAU, SMAD4, GP1BA, KNG1, TGFB1, SLC4A1, NOS3, RPL5, CCND1, ITGB3, AP3B1, AGT, CLDN1, GATA2, HLA-DRB1, SCARB2, F8, TCIRG1, KIF1B, CASR, ACTN1, FLNA, ITGB2, SOS1, HRG, F2, FGA, IL10, LMAN1, ACTN4, HLA-DQA1, KLF1, PRKCD, JAK2, STAT1, PDGFRA, HLA-DQB1, STX11, VPS33B, PFKM, CD36, FASLG, ITGA2B, DTNBP1, TMEM173, TMEM67, PSTPIP1, PICALM, MYH9, CALR, OCLN, VPS45, ATR, WAS, DDOST, AIRE, IL2RA, PTPN11, MTOR, MYD88

{SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, COMBINED FACTOR V AND VIII DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, RHEUMATOID ARTHRITIS

HLA-DRB1, HLA-DQB1, LMAN1, HLA-DQA1

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GM1-GANGLIOSIDOSIS, TYPE III, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, NIEMANN-PICK DISEASE, TYPE A, INCONTINENTIA PIGMENTI, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, GAUCHER DISEASE, PERINATAL LETHAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, WILSON DISEASE, COMBINED FACTOR V AND VIII DEFICIENCY, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, CEROID LIPOFUSCINOSIS, NEURONAL, 3, SMITH-KINGSMORE SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, GM1-GANGLIOSIDOSIS, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, DIAMOND-BLACKFAN ANEMIA 6, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, LEUKEMIA, CHRONIC MYELOID, SOMATIC, CATARACT 13 WITH ADULT I PHENOTYPE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, YUNIS-VARON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPOBETALIPOPROTEINEMIA, WHIM SYNDROME, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, AICARDI-GOUTIERES SYNDROME 6, CAMURATI-ENGELMANN DISEASE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, WISKOTT-ALDRICH SYNDROME, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], [BOMBAY PHENOTYPE], MEDULLARY CYSTIC KIDNEY DISEASE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 46, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, GAUCHER DISEASE, TYPE II, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, GAUCHER DISEASE, TYPE IIIC, GAUCHER DISEASE, TYPE I, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

SLC35A2, NRAS, RPL5, LMAN1, GLB1, SMPD1, GCNT2, IL10, PICALM, CD46, ADAR, F8, IRF5, WAS, PIGT, FUT2, CIITA, NOS3, CXCR4, STAT1, MUC1, SLC35A1, AIRE, CASR, AGT, TGFB1, MTOR, ACVRL1, SPATA5, MGAT2, APOB, DDOST, CLN3, RUNX1, CBL, STK11, HLA-DQA1, GBA, FASLG, HLA-DRB1, PDGFRA, B4GALT1, IKBKG, HLA-DQB1, COG4, CALR, SLC35C1, C3, TMEM165, COG6, PSTPIP1, ATP7B, CD81, KRAS, VPS45, SMAD4, CD40, STAT3, MYD88, TFRC, SEC23B, BCR, FUT1, FIG4

REVESZ SYNDROME, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CAMURATI-ENGELMANN DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLANZMANN THROMBASTHENIA, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CHOREOACANTHOCYTOSIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, NIEMANN-PICK DISEASE TYPE C1, VON WILLEBRAND DISEASE, TYPE 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, BLEEDING DISORDER, PLATELET-TYPE, 15, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEMOCHROMATOSIS, TYPE 2B, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SEBASTIAN SYNDROME, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, PROLIDASE DEFICIENCY, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, WHIM SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PLATELET GLYCOPROTEIN IV DEFICIENCY, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, NIEMANN-PICK DISEASE, TYPE A, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MAY-HEGGLIN ANOMALY, LEUKEMIA, CHRONIC MYELOID, SOMATIC, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, CEROID LIPOFUSCINOSIS, NEURONAL, 3, QUEBEC PLATELET DISORDER, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, NETHERTON SYNDROME, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HERMANSKY-PUDLAK SYNDROME 7, HETEROTOPIA, PERIVENTRICULAR, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, APOE, BRCA2, F2, APOB, PICALM, FERMT3, CIITA, TBXA2R, RPL5, FTL, ALDOA, AGT, PIGT, ITGA2B, REN, FGA, STK11, ENG, LRBA, TFRC, MMP1, NEU1, MPO, NPC1, PRF1, BLOC1S6, GFI1B, FGG, SMAD4, CD40, PRKACG, CD81, AMN, KRAS, RUNX1, PLAU, HAMP, VWF, NOS3, CAD, MYD88, MTOR, SCARB2, ACTN1, DHFR, CBL, CCND1, JAK2, HLA-DRB1, VPS33B, PFKM, SH2D1A, VIPAS39, WAS, PKLR, SEC23B, CUBN, BMPR2, KCNA5, CALR, ITGB3, SMPD1, ADAR, FGB, CD40LG, FLNA, CASR, FOXP3, SPINK5, BRCA1, ITGB2, ELANE, DTNBP1, PSTPIP1, ABCD3, DDOST, LMBRD1, KIT, BCR, SSR4, CHIC2, SLC2A1, SLC40A1, PRKCD, VPS13A, KNG1, TGFB1, PTPN11, CXCR4, MUC1, MYH9, STAT1, STAT3, MT-CO2, PEPD, SOS1, FGFR2, ACTN4, PDGFRA, CACNA1S, STX11, TF, CD36, CTLA4, HPS1, FASLG, AP3B1, ADA, OCLN, VPS45, CLN3, TINF2, SERPINE1

EMBERGER SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 21, INCONTINENTIA PIGMENTI, DIAMOND-BLACKFAN ANEMIA 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, DIAMOND-BLACKFAN ANEMIA 8, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, CYANOSIS, TRANSIENT NEONATAL, DIAMOND-BLACKFAN ANEMIA 6, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ?DIAMOND-BLACKFAN ANEMIA 12, DIAMOND-BLACKFAN ANEMIA 3, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 9, SICKLE CELL ANEMIA, DIAMOND-BLACKFAN ANEMIA 7, HERMANSKY-PUDLAK SYNDROME 1, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 10, GLYCOGEN STORAGE DISEASE VII, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, DIAMOND-BLACKFAN ANEMIA 9, HERMANSKY-PUDLAK SYNDROME 7, SMITH-KINGSMORE SYNDROME

RPS26, HBB, KRAS, RPS14, CASP10, RPS28, PGK1, IKBKG, HBA1, NOS3, RPL5, DTNBP1, CAD, MTOR, HBG2, FOXP3, RPL35A, BRCA1, RPS29, CBL, PRKACG, KLF1, RPL11, RPS17, RPL15, PFKM, GATA2, BLOC1S6, PTPN11, RPS10, RPS19, CYB5R3, RPS24, RPL26, HPS1, RPS7

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, POLYCYTHEMIA VERA, SOMATIC, HERMANSKY-PUDLAK SYNDROME 2, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, NIEMANN-PICK DISEASE TYPE C1, INCONTINENTIA PIGMENTI, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, WHIM SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ATRANSFERRINEMIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, YUNIS-VARON SYNDROME, HYPOBETALIPOPROTEINEMIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HERMANSKY-PUDLAK SYNDROME 9, RHEUMATOID ARTHRITIS, HERMANSKY-PUDLAK SYNDROME 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, INTRINSIC FACTOR DEFICIENCY, CAMURATI-ENGELMANN DISEASE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, GLYCOGEN STORAGE DISEASE VII, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, HERMANSKY-PUDLAK SYNDROME 7, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17

AMN, CA2, NRAS, CALR, GIF, VPS45, APOB, RPS14, CBL, PICALM, SMAD4, CD40, IRF5, HBA1, IKBKG, SLC29A3, CXCR4, RPL5, PFKM, AP3B1, AGT, CIITA, TGFB1, HLA-DRB1, TCIRG1, PRF1, FOXP3, BMPR1A, SLC11A2, TMEM165, SOS1, KRAS, RUNX1, IL10, PSMB8, DTNBP1, IL2RA, JAK2, STAT1, VPS33B, STEAP3, HLA-DQB1, STX11, SH3GL1, SNX10, CUBN, NPC1, TFRC, BLOC1S6, GFI1B, TF, MYD88, LAMTOR2, ABCD3, STAT3, DDOST, HLA-DQA1, PTPN11, BCR, FIG4