HEMATOLOGY

WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, 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, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, VON WILLEBRAND DISEASE, TYPE 1, 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, HEMOCHROMATOSIS, TYPE 2B, COMBINED FACTOR V AND VIII DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, 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, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPOBETALIPOPROTEINEMIA, HEMOPHILIA B, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CAMURATI-ENGELMANN DISEASE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IRON-REFRACTORY IRON DEFICIENCY ANEMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, QUEBEC PLATELET DISORDER, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, FACTOR XIIIA DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FACTOR XII DEFICIENCY, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, FACTOR X DEFICIENCY, FACTOR VII DEFICIENCY, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

F5, TMPRSS6, F13A1, APOB, RUNX1, PLAU, CD40, NME1, VWF, F9, TGFB1, C3, NOS3, CD40LG, F2, KNG1, AGT, MTOR, STAT3, F8, GGCX, ITGB2, ELANE, FGA, CBL, LMAN1, CFI, MMP1, NEU1, F12, F10, ADA, F7, GP9, HAMP, CD46, HLA-DQA1, SERPINE1, CFB

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, TRICHOHEPATOENTERIC SYNDROME 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROCYTOSIS, FAMILIAL, 2, 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, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, COMBINED FACTOR V AND VIII DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, GLANZMANN THROMBASTHENIA, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, PRIMARY PULMONARY HYPERTENSION, HYPOBETALIPOPROTEINEMIA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, LYMPHOPROLIFERATIVE SYNDROME 2, HYPERPARATHYROIDISM, NEONATAL, QUEBEC PLATELET DISORDER, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NETHERTON SYNDROME, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, FACTOR X DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SMITH-KINGSMORE SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

LMAN1, ITGB3, REN, IL2RA, PLAU, CD40, KNG1, HBA1, MYD88, FLNA, NOS3, CD40LG, FTL, F2, CASR, AGT, TGFB1, HRG, VHL, GGCX, ITGB2, APOB, ELANE, FGA, IL10, CCND1, CD27, STAT1, TF, C3, F10, TTC37, FANCA, SERPINF2, SPINK5, STAT3, BMPR2, SERPINE1, MTOR, COL7A1

MEDULLARY CYSTIC KIDNEY DISEASE 1, CATARACT 13 WITH ADULT I PHENOTYPE, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME

MUC1, GCNT2, CCND1

REVESZ SYNDROME, 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, ?NEUTROPHILIA, HEREDITARY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, FACTOR V DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, TRANSCOBALAMIN II DEFICIENCY, BENT BONE DYSPLASIA 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, HYPOPHOSPHATASIA, INFANTILE, PORENCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ACUTE MYELOID LEUKEMIA, M6 TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, NIEMANN-PICK DISEASE TYPE C1, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, DYSKERATOSIS CONGENITA, X-LINKED, ATRANSFERRINEMIA, NOONAN SYNDROME 9, 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, 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], IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IVIC SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, EMBERGER SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, POLYCYTHEMIA VERA, SOMATIC, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, NIEMANN-PICK DISEASE, TYPE A, BLEEDING DISORDER, PLATELET-TYPE, 15, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, WHIM SYNDROME, {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, PLATELET GLYCOPROTEIN IV DEFICIENCY, 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, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GALACTOSEMIA, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, 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, BLEEDING DISORDER, PLATELET-TYPE, 11, [BLOOD GROUP, LUTHERAN NULL], {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), THROMBOCYTHEMIA 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HETEROTOPIA, PERIVENTRICULAR, GLANZMANN THROMBASTHENIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, ERYTHROCYTOSIS, FAMILIAL, 2, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, LYMPHOPROLIFERATIVE SYNDROME 2, QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, KABUKI SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, THROMBOCYTOPENIA 5, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, KCNA5, APOE, C3AR1, F2, APOB, MMP1, P2RY12, GP1BA, FAS, PIGT, CIITA, TBXA2R, RPL5, FTL, ALDOA, AGT, ITGA2B, SMPD1, FGA, ENG, SALL4, TFRC, ALG2, NPC1, PRF1, GFI1B, CD40, HLA-DQA1, CD81, F5, KRAS, RUNX1, IL10, PLAU, IRF5, HBA1, ETV6, NOS3, GP1BB, THRA, CCND1, IKBKG, GATA2, GPI, THBD, THPO, SCARB2, BMPR1A, ITGA2, GALT, CD27, CBL, MPL, JAK2, HLA-DRB1, VPS33B, GP6, C3, TMEM173, ALPL, SH2D1A, STAT3, SEC23B, ACD, SOS2, TNFSF11, GATA1, CALR, ITGB3, DKC1, SLC35A2, IL2RA, NRAS, SMAD4, VWF, SMAD9, CD36, CD40LG, FLNA, CASR, VHL, COL4A1, KIF1B, FOXP3, ITGB2, ELANE, KLF1, WAS, FASLG, SH3GL1, TMEM67, PSTPIP1, NF1, HAMP, ACVRL1, DDOST, KIT, BCR, EPOR, F12, CSF3R, SH2B3, NME1, SLC2A1, PRKCD, CD59, KNG1, CLDN1, PTPN11, CXCR4, FCGR2B, FTH1, KMT2D, TGFB1, REN, STAT1, BCAM, MT-CO2, FLT3, PICALM, SOS1, FGFR2, ACTN4, BRAF, CD3G, NPM1, RPL11, PDGFRA, STX11, TF, TCN2, ACTN1, F10, HLA-DQB1, ADA, SERPINF2, P2RX1, CD46, MYD88, BMPR2, TINF2, SERPINE1, MTOR

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, DYSKERATOSIS CONGENITA, X-LINKED, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, IMMUNODEFICIENCY 23, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY

MUT, PMM2, GPI, PGM3, DKC1, PUS1, BPGM

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CAMURATI-ENGELMANN DISEASE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, VON WILLEBRAND DISEASE, TYPE 1, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, FOLATE MALABSORPTION, HEREDITARY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 9, PRIMARY PULMONARY HYPERTENSION, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ANEMIA, SIDEROBLASTIC, 1, GLYCOGEN STORAGE DISEASE XII, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GLYCOGEN STORAGE DISEASE VII, GLUTATHIONE SYNTHETASE DEFICIENCY, TRIMETHYLAMINURIA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

KCNA5, YARS2, FTCD, SLC46A1, FMO3, VWF, CBS, NOS3, ALDOA, AGT, TGFB1, GSS, MT-CO2, MUT, PFKM, SERPINE1, RPS10, FGG, GPX1, GCLC, CAD, ALAS2, DHFR, MTOR

POLYARTERITIS NODOSA, CHILDHOOD-ONSET, CAMURATI-ENGELMANN DISEASE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ATRANSFERRINEMIA, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, QUEBEC PLATELET DISORDER, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SEA-BLUE HISTIOCYTE DISEASE, FACTOR VII DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGA, HLA-DRB1, F7, FLNA, TF, IL2RA, PLEC, CECR1, STAT3, PLAU, APOE, CFH, NOS3, CALR, AGT, ITGB2, C3, HRG, TGFB1, APOB, VWF

?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, NIEMANN-PICK DISEASE, TYPE A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, NIEMANN-PICK DISEASE TYPE C1, BARTTER SYNDROME, TYPE 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, 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, SPHEROCYTOSIS, TYPE 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, [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, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, OMENN SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, WISKOTT-ALDRICH SYNDROME, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, PYRUVATE KINASE DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, GLYCOGEN STORAGE DISEASE XII, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SEA-BLUE HISTIOCYTE DISEASE, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SMITH-KINGSMORE SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

FASLG, APOE, CALR, ITGB3, SMPD1, PRKCD, CBL, PLAU, SMAD4, NME1, FAS, PIGT, TGFB1, PGK1, PKLR, RPL5, SNX10, FLNA, CASR, AGT, NPM1, STAT3, NOS3, TBXA2R, MTOR, ITGB2, ARHGAP26, APOB, TPI1, FGA, ALDOA, ACTN4, CCND1, KCNJ1, IL10, WAS, JAK2, STAT1, KIT, PTPN11, F10, F2, ACTN1, SOS1, NPC1, PSTPIP1, PICALM, RPS7, TERT, CD40, SPTB, RAG2, ACD, NF1

REVESZ SYNDROME, RETICULAR DYSGENESIS, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, TRIMETHYLAMINURIA, 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, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, FAVISM, BARTH SYNDROME, WILSON DISEASE, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, BONE MARROW FAILURE SYNDROME 1, BLEEDING DISORDER, PLATELET-TYPE, 20, ?HEMOCHROMATOSIS, TYPE 5, NIJMEGEN BREAKAGE SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, AICARDI-GOUTIERES SYNDROME 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, INTERSTITIAL LUNG AND LIVER DISEASE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GLANZMANN THROMBASTHENIA, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, BENT BONE DYSPLASIA SYNDROME, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, DIAMOND-BLACKFAN ANEMIA 3, 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, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, {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, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, DIAMOND-BLACKFAN ANEMIA 9, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, OROTIC ACIDURIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, SITOSTEROLEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, BARTTER SYNDROME, TYPE 2, NIEMANN-PICK DISEASE TYPE C1, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, HYPOBETALIPOPROTEINEMIA, FOLATE MALABSORPTION, HEREDITARY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, BLEEDING DISORDER, PLATELET-TYPE, 15, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, GALACTOSEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DYSKERATOSIS CONGENITA, X-LINKED, ATRANSFERRINEMIA, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, WOLFRAM SYNDROME 2, OMENN SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, 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, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, PELGER-HUET ANOMALY, PROLIDASE DEFICIENCY, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, WHIM SYNDROME, HYPER-IGD SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {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, HETEROTOPIA, PERIVENTRICULAR, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, ELLIPTOCYTOSIS-2, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, METHYLMALONIC ACIDURIA, MUT(0) TYPE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, 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 RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, SENGERS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, GLUTATHIONE SYNTHETASE DEFICIENCY, 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, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MAY-HEGGLIN ANOMALY, LESCH-NYHAN SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, LIVER FAILURE, TRANSIENT INFANTILE, FANCONI ANEMIA, COMPLEMENTATION GROUP T, BONE MARROW FAILURE SYNDROME 2, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, ISOVALERIC ACIDEMIA, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, 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, BRCA2, FANCM, HLCS, TREX1, APOB, MMP1, FMO3, SPATA5, ATRX, LBR, PGK1, MYD88, TBXA2R, DGUOK, RPL5, TUBB1, F2, AGT, PCCB, FLT3, SSR4, PIGT, AK2, NLRC4, PNPO, SPTA1, FGA, STK11, IL2RA, TERT, FH, FANCA, AGK, CYCS, NBN, SOS1, NPC1, TFRC, RPS19, GFI1B, CYB5R3, RTEL1, SMAD4, CD40, ABCB6, UMPS, CLCN7, MMAA, FANCD2, BRAF, RPS28, DGKE, FARS2, KRAS, RUNX1, IL10, CIITA, FAS, LZTR1, GCLC, IRF5, HBA1, KNG1, VWF, PKLR, PARN, DCLRE1C, KCNJ1, CAD, IKBKG, GATA2, GPI, NOS3, BMPR1A, CPOX, GALT, SLFN14, MECOM, CBL, PSMB8, RPS24, CCND1, JAK2, ACAD9, HLA-DRB1, VPS33B, FANCC, PFKM, AK1, FTL, HPRT1, SAMHD1, TMEM173, OCLN, MASTL, ABCD4, CASR, SMAD9, ABCB7, ITK, SLC22A4, PANK2, STAT3, SEC23B, ACD, TMEM165, GSS, BMPR2, GATA1, LARS, NT5C3A, ITGB3, VHL, REN, KCNN4, NRAS, MMAB, ADAR, CBFB, ETV6, CBS, SRP72, MVK, CD40LG, TAZ, NUP214, UBE2T, KIF1B, BCS1L, SMARCAL1, BRCA1, ITGB2, IFIH1, PRKACG, TPI1, TRNT1, KLF1, MUT, RBM8A, CISD2, PEX19, TRMU, PLAU, FECH, RPS10, PCCA, PSTPIP1, ATP7B, HOXA11, HSPA9, HK1, NF1, XRCC4, ABCD3, NEU1, ACVRL1, DDOST, KIT, BCR, IVD, FAH, DDX41, NME1, FLNA, PRKCD, VPS13A, SLC46A1, P2RX1, ERCC6L2, ABCG5, PEPD, CXCR4, FTH1, KMT2D, MYH9, TGFB1, ERCC4, STAT1, WAS, MT-CO2, SERPINE1, G6PD, PTPN11, YARS2, ARHGAP26, FGFR2, ACTN4, TINF2, NPM1, MARS, RPL11, THRA, PDGFRA, RAB40AL, ALPL, CALR, DKC1, CD36, ACTN1, DHFR, F10, FASLG, AP3B1, SARS2, TF, NHP2, RPS14, VPS45, PHGDH, ATR, SOS2, C10orf2, MTRR, MTOR

REVESZ SYNDROME, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CAMURATI-ENGELMANN DISEASE, NEPHRONOPHTHISIS 1, JUVENILE, ANEMIA, SIDEROBLASTIC, 4, {THIOPURINES, POOR METABOLISM OF, 1}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, GAUCHER DISEASE, PERINATAL LETHAL, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, BARTH SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, BONE MARROW FAILURE SYNDROME 1, ?DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS, ?HEMOCHROMATOSIS, TYPE 5, NIJMEGEN BREAKAGE SYNDROME, FACTOR V DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, INTERSTITIAL LUNG AND LIVER DISEASE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, TRANSALDOLASE DEFICIENCY, FECHTNER SYNDROME, DIAMOND-BLACKFAN ANEMIA 3, 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, HERMANSKY-PUDLAK SYNDROME 1, EPSTEIN SYNDROME, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, TRICHOHEPATOENTERIC SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, 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, GAUCHER DISEASE, TYPE IIIC, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, OROTIC ACIDURIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, NORUM DISEASE, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, BENT BONE DYSPLASIA SYNDROME, INCONTINENTIA PIGMENTI, AICARDI-GOUTIERES SYNDROME 5, SECKEL SYNDROME 1, GM1-GANGLIOSIDOSIS, TYPE II, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, GREENBERG SKELETAL DYSPLASIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, DYSKERATOSIS CONGENITA, X-LINKED, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ATRANSFERRINEMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, YUNIS-VARON SYNDROME, PRIMARY PULMONARY HYPERTENSION, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, [BOMBAY PHENOTYPE], GLYCOGEN STORAGE DISEASE IA, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OMENN SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, GAUCHER DISEASE, TYPE I, IMMUNODEFICIENCY, COMMON VARIABLE, 6, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETICULAR DYSGENESIS, HEREDITARY PYROPOIKILOCYTOSIS, EMBERGER SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, PELGER-HUET ANOMALY, PROLIDASE DEFICIENCY, TYROSINEMIA, TYPE I, FUMARASE DEFICIENCY, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, HYPER-IGD SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, CHANARIN-DORFMAN SYNDROME, HETEROTOPIA, PERIVENTRICULAR, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, GAUCHER DISEASE, TYPE III, NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, ELLIPTOCYTOSIS-2, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, WISKOTT-ALDRICH SYNDROME, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, CATARACT 13 WITH ADULT I PHENOTYPE, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, SENGERS SYNDROME, ?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, GALACTOSEMIA, COENZYME Q10 DEFICIENCY, PRIMARY, 1, FANCONI ANEMIA, COMPLEMENTATION GROUP L, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, 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, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, LESCH-NYHAN SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, LEUKEMIA, CHRONIC MYELOID, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, 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, LIVER FAILURE, TRANSIENT INFANTILE, ANEMIA, SIDEROBLASTIC, 1, FANCONI ANEMIA, COMPLEMENTATION GROUP T, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, KABUKI SYNDROME 1, HAMAMY SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, GAUCHER DISEASE, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, 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

GATA1, APOE, BRCA2, FANCM, F2, APOB, MMP1, MT-CO1, RAG1, LBR, PGK1, FUT2, IKBKG, G6PC, PKLR, DGUOK, RPL5, ALDOA, FTL, ITGB3, AGT, AK2, DKC1, STT3B, TSR2, ITGA2B, CLN3, COX10, IRX5, STK11, ENG, IL2RA, LCAT, TERT, FH, SPTA1, MMAB, AGK, ALG2, NBN, TFRC, RPS19, GFI1B, SMAD4, PIGM, UMPS, RPS24, ABHD5, CD81, DGKE, FIG4, F5, FARS2, KRAS, RUNX1, PLAU, FAS, LZTR1, CD40, NME1, HBA1, PIGT, NOS3, THRA, TTC37, CAD, CIITA, GATA2, FUT1, MGAT2, BMPR1A, GALT, WHSC1L1, CBL, PRKACG, CCND1, CD27, MUC1, TALDO1, FANCC, PFKM, AK1, HPRT1, SAMHD1, TMEM173, MASTL, ALPL, CASR, FANCA, ALG6, ITK, PANK2, STAT3, FANCD2, SEC23B, ACD, BMPR2, KCNA5, PIGA, DPAGT1, GLB1, VHL, SLC35A2, KCNN4, FTCD, ADAR, CBFB, F13A1, ETV6, SMAD9, PEX19, MVK, STAT1, FLNA, TAZ, BRAF, UBE2T, BCS1L, TNFAIP3, KIF1B, FOXP3, BRCA1, ITGB2, TPI1, FANCL, COQ2, TRNT1, DTNBP1, MUT, GCNT2, TRMU, TPMT, PSTPIP1, HSPA9, HK1, NF1, XRCC4, NEU1, ACVRL1, DDOST, KIT, BCR, ALAS2, FAH, NRAS, KNG1, TNFSF11, MLF1, CD40LG, PRKCD, BAAT, TGM6, DPM1, NPHP1, CLDN1, PEPD, CXCR4, B4GALT1, KMT2D, KLF1, MYH9, TGFB1, NSD1, WAS, MT-CO2, FLT3, PTPN11, SOS1, FGFR2, ACTN4, TINF2, NPM1, GBA, MARS, RPL11, CPOX, PDGFRA, STX11, NT5C3A, CD36, ACTN1, PNP, F10, FTH1, FASTKD2, FASLG, MTR, SARS2, TF, OCLN, RPS14, SRP72, ATR, MYD88, COL7A1, C10orf2, JAK2, SERPINE1, ALG13, MTOR

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

HLA-DRB1, HLA-DQB1, HLA-DQA1

WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 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, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, VON WILLEBRAND DISEASE, TYPE 1, 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, DIAMOND-BLACKFAN ANEMIA 8, HEMOCHROMATOSIS, TYPE 2B, COMBINED FACTOR V AND VIII DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, FACTOR VII DEFICIENCY, 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, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, HEMOPHILIA B, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, CAMURATI-ENGELMANN DISEASE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IRON-REFRACTORY IRON DEFICIENCY ANEMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, QUEBEC PLATELET DISORDER, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, FACTOR XIIIA DEFICIENCY, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, FACTOR XII DEFICIENCY, SEA-BLUE HISTIOCYTE DISEASE, FACTOR X DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

F12, APOE, F5, TMPRSS6, F13A1, APOB, RUNX1, PLAU, SMAD4, CD40, NME1, VWF, F9, TGFB1, CYCS, NOS3, CD40LG, F2, KNG1, AGT, MTOR, STAT3, F8, GGCX, ITGB2, ELANE, FGA, CBL, LMAN1, CFI, MMP1, NEU1, C3, F10, TERT, ADA, RPS7, GP9, HAMP, F7, CD46, HLA-DQA1, SERPINE1, CFB

REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, SENIOR-LOKEN SYNDROME 4, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, TRANSALDOLASE DEFICIENCY, FECHTNER SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HERMANSKY-PUDLAK SYNDROME 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, 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, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NEPHRONOPHTHISIS 4, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, KENNY-CAFFEY SYNDROME, TYPE 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FACTOR X DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 17, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, POLYCYTHEMIA VERA, SOMATIC, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, WISKOTT-ALDRICH SYNDROME, HYPERPARATHYROIDISM, NEONATAL, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPSTEIN SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?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}, MAY-HEGGLIN ANOMALY, DIAMOND-BLACKFAN ANEMIA 1, 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, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, QUEBEC PLATELET DISORDER, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CHEDIAK-HIGASHI SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, HETEROTOPIA, PERIVENTRICULAR, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, SMITH-KINGSMORE SYNDROME

KCNA5, GATA1, KIT, IRF5, ITGB3, APOB, RPS14, CBL, PLAU, BRAF, SMAD4, NME1, FAS, WAS, LYST, KNG1, IKBKG, PGK1, NOS3, FLNA, CD40LG, CCND1, MYH9, CAD, TGFB1, NPM1, STAT1, ACVRL1, TBCE, FLT3, FOXP3, ACTN1, BRCA1, NPHP4, SOS1, GFI1B, IL10, STK11, TINF2, DTNBP1, RUNX1, JAK2, PRKCD, RPL5, CACNA1S, ITGB2, TALDO1, LZTR1, CALR, CYCS, PTPN11, F10, FTH1, TMEM173, PSTPIP1, CASR, RPS19, PARN, OCLN, TERT, ATR, AGT, STAT3, DDOST, TFRC, SEC23B, ACD, ATRX, PRKACG, MTOR

REVESZ SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, TRANSALDOLASE DEFICIENCY, FECHTNER SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HERMANSKY-PUDLAK SYNDROME 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, 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, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, KENNY-CAFFEY SYNDROME, TYPE 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FACTOR X DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 17, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, POLYCYTHEMIA VERA, SOMATIC, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CAMURATI-ENGELMANN DISEASE, HYPERPARATHYROIDISM, NEONATAL, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPSTEIN SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?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}, MAY-HEGGLIN ANOMALY, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, WISKOTT-ALDRICH SYNDROME, QUEBEC PLATELET DISORDER, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHEDIAK-HIGASHI SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, HETEROTOPIA, PERIVENTRICULAR, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, SMITH-KINGSMORE SYNDROME

KCNA5, GATA1, APOB, ATRX, SLC2A1, KRAS, RPS14, IL10, PLAU, SMAD4, PTPN22, NME1, FAS, WAS, LYST, IRF5, TGFB1, PGK1, NOS3, FLNA, CD40LG, RUNX1, ITGB3, MYH9, CAD, IKBKG, NPM1, STAT1, ACVRL1, TBCE, TNFAIP3, FLT3, FOXP3, ACTN1, BRCA1, ITGB2, SOS1, GFI1B, CCND1, CBL, STK11, SEC23B, DTNBP1, PRKCD, JAK2, RPL5, CACNA1S, KIT, TALDO1, LZTR1, PFKM, CYCS, FASLG, PTPN11, F10, FTH1, TMEM173, TINF2, PSTPIP1, CASR, RPS19, PARN, CALR, KNG1, OCLN, TERT, ATR, AGT, STAT3, DDOST, TFRC, BRAF, ACD, BCR, PRKACG, MTOR

REVESZ SYNDROME, RETICULAR DYSGENESIS, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, 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, AICARDI-GOUTIERES SYNDROME 7, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, BARTH SYNDROME, WILSON DISEASE, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, BONE MARROW FAILURE SYNDROME 1, BLEEDING DISORDER, PLATELET-TYPE, 20, ?HEMOCHROMATOSIS, TYPE 5, NIJMEGEN BREAKAGE SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, INTERSTITIAL LUNG AND LIVER DISEASE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GLANZMANN THROMBASTHENIA, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, BENT BONE DYSPLASIA SYNDROME, 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, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, NOONAN SYNDROME 4, OROTIC ACIDURIA, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, SITOSTEROLEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, BARTTER SYNDROME, TYPE 2, NIEMANN-PICK DISEASE TYPE C1, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, INCONTINENTIA PIGMENTI, HYPOBETALIPOPROTEINEMIA, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, BLEEDING DISORDER, PLATELET-TYPE, 15, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, GALACTOSEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DYSKERATOSIS CONGENITA, X-LINKED, ATRANSFERRINEMIA, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, 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], SEBASTIAN SYNDROME, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OMENN SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, 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, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, PELGER-HUET ANOMALY, PROLIDASE DEFICIENCY, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, WHIM SYNDROME, HYPER-IGD SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {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, HETEROTOPIA, PERIVENTRICULAR, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, ELLIPTOCYTOSIS-2, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, 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, SENGERS SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, GLUTATHIONE SYNTHETASE DEFICIENCY, 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, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MAY-HEGGLIN ANOMALY, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, LEUKEMIA, CHRONIC MYELOID, SOMATIC, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DIAMOND-BLACKFAN ANEMIA 7, LIVER FAILURE, TRANSIENT INFANTILE, FANCONI ANEMIA, COMPLEMENTATION GROUP T, BONE MARROW FAILURE SYNDROME 2, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, BRCA2, FANCM, HLCS, TREX1, APOB, MMP1, SPATA5, ATRX, LBR, PGK1, MYD88, TBXA2R, DGUOK, RPL5, TUBB1, F2, AGT, PCCB, SSR4, PIGT, AK2, NLRC4, SPTA1, FGA, STK11, IL2RA, TERT, FH, AGK, NBN, SOS1, NPC1, TFRC, RPS19, GFI1B, CYB5R3, SMAD4, CD40, ABCB6, UMPS, CLCN7, MMAA, FANCD2, RPS28, DGKE, KRAS, RUNX1, IL10, CIITA, FAS, LZTR1, GCLC, IRF5, HBA1, KNG1, VWF, PKLR, THRA, DCLRE1C, KCNJ1, CAD, IKBKG, GATA2, GPI, NOS3, BMPR1A, GALT, ABCB7, MECOM, DHFR, CBL, PSMB8, SLFN14, CCND1, JAK2, STAT1, VPS33B, FANCC, PFKM, AK1, FTL, SAMHD1, TMEM173, RTEL1, MASTL, ABCD4, CASR, SMAD9, ITK, SLC22A4, PANK2, STAT3, SEC23B, ACD, GSS, BMPR2, GATA1, LARS, TF, ITGB3, VHL, REN, KCNN4, NRAS, MMAB, ADAR, CBFB, ETV6, CBS, SRP72, MVK, HLA-DRB1, TAZ, NUP214, UBE2T, KIF1B, BCS1L, SMARCAL1, BRCA1, ITGB2, IFIH1, PRKACG, TPI1, TRNT1, KLF1, MUT, PEX19, TRMU, FECH, PCCA, PSTPIP1, ATP7B, FANCA, HSPA9, HK1, NF1, FARS2, ABCD3, BRAF, ACVRL1, DDOST, KIT, BCR, OCLN, FAH, DDX41, NME1, FLNA, PRKCD, VPS13A, P2RX1, ERCC6L2, ABCG5, PEPD, CXCR4, FTH1, KMT2D, MYH9, TGFB1, ERCC4, WAS, MT-CO2, FLT3, PTPN11, YARS2, ARHGAP26, FGFR2, ACTN4, TINF2, NPM1, MARS, RPL11, CPOX, PDGFRA, RAB40AL, ALPL, CALR, DKC1, CD36, ACTN1, MTRR, F10, FASLG, AP3B1, SARS2, NHP2, RPS14, VPS45, ATR, SOS2, C10orf2, SERPINE1, MTOR

EMBERGER 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, VON WILLEBRAND DISEASE, TYPE 1, CAMURATI-ENGELMANN DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LEUKOCYTE ADHESION DEFICIENCY, 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, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LEUKEMIA, CHRONIC MYELOID, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, HYPERPARATHYROIDISM, NEONATAL, QUEBEC PLATELET DISORDER, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, STORMORKEN SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, IMMUNODEFICIENCY 10, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, BLEEDING DISORDER, PLATELET-TYPE, 17, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

KCNA5, STIM1, CALR, ITGB3, PRKCD, CBL, PLAU, C3AR1, FERMT3, TGFB1, VWF, NOS3, CXCR4, F2, CASR, AGT, GATA2, CD46, SCARB2, ACTN1, ITGA2, ITGB2, FGA, FGFR2, ACTN4, CCND1, ADAMTS13, C3, CD81, GFI1B, FGG, FLNA, STAT3, BMPR2, PTPN11, BCR, COL7A1

REVESZ SYNDROME, RETICULAR DYSGENESIS, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, 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, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BARTH SYNDROME, WILSON DISEASE, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, BONE MARROW FAILURE SYNDROME 1, BLEEDING DISORDER, PLATELET-TYPE, 20, ?INFANTILE LIVER FAILURE SYNDROME 1, ?HEMOCHROMATOSIS, TYPE 5, NIJMEGEN BREAKAGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, FACTOR V DEFICIENCY, AICARDI-GOUTIERES SYNDROME 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, INTERSTITIAL LUNG AND LIVER DISEASE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GLANZMANN THROMBASTHENIA, OMENN SYNDROME, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, BENT BONE DYSPLASIA SYNDROME, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, 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, SPHEROCYTOSIS, TYPE 1, EPSTEIN SYNDROME, HYPOPHOSPHATASIA, INFANTILE, PORENCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, HEMOPHILIA B, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, 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, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, SITOSTEROLEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, BARTTER SYNDROME, TYPE 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, GLUTATHIONE SYNTHETASE DEFICIENCY, NIEMANN-PICK DISEASE TYPE C1, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, HYPOBETALIPOPROTEINEMIA, SECKEL SYNDROME 1, GM1-GANGLIOSIDOSIS, TYPE II, BLEEDING DISORDER, PLATELET-TYPE, 15, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, GALACTOSEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, 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, ATRANSFERRINEMIA, NOONAN SYNDROME 9, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, 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], SEBASTIAN SYNDROME, 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, MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IVIC SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, 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, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, POLYCYTHEMIA VERA, SOMATIC, PELGER-HUET ANOMALY, PROLIDASE DEFICIENCY, FUMARASE DEFICIENCY, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, PROPIONICACIDEMIA, WHIM SYNDROME, HYPER-IGD SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {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, HETEROTOPIA, PERIVENTRICULAR, 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, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, 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, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, INTRINSIC FACTOR DEFICIENCY, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, SENGERS SYNDROME, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, IMMUNODEFICIENCY 46, {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, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, 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 RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, THROMBOCYTOPENIA 5, 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, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MAY-HEGGLIN ANOMALY, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, LEUKEMIA, CHRONIC MYELOID, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE III, THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, LIVER FAILURE, TRANSIENT INFANTILE, FANCONI ANEMIA, COMPLEMENTATION GROUP T, BONE MARROW FAILURE SYNDROME 2, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, FACTOR XIIIA DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 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, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, DIAMOND-BLACKFAN ANEMIA 1, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, FANCONI ANEMIA, COMPLEMENTATION GROUP C, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, KCNA5, APOE, BRCA2, FANCM, HLCS, TREX1, CLN3, MMP1, GP1BA, SPATA5, F5, LBR, PGK1, MYD88, TBXA2R, DGUOK, RPL5, ALDOA, TUBB1, F2, AGT, NBN, GSS, SSR4, PIGT, AK2, CASR, NPC1, GGCX, YARS2, APOB, FGA, STK11, ENG, IL2RA, SALL4, PSTPIP1, FH, SPTA1, AGK, CYCS, MPO, SOS1, PNPO, SRP72, TFRC, RPS19, GFI1B, CYB5R3, CECR1, SMAD4, CD40, ABCB6, UMPS, CLCN7, MMAA, FANCD2, PCCB, RPS28, DGKE, F13A1, KRAS, RUNX1, IL10, CIITA, FCGR2B, FAS, LZTR1, GCLC, NME1, HBA1, F9, VWF, PKLR, THRA, DCLRE1C, KCNJ1, CAD, IKBKG, RYR1, GPI, THBD, NOS3, BMPR1A, ITGA2, GALT, ABCB7, DHFR, CBL, PSMB8, SLFN14, CCND1, GLA, JAK2, HLA-DRB1, VPS33B, FANCC, PFKM, AK1, FTL, C3, SAMHD1, TMEM173, RTEL1, MASTL, ABCD4, NLRC4, SMAD9, ITK, SLC22A4, PANK2, STAT3, SEC23B, ACD, ATRX, NUP214, BMPR2, GATA1, LARS, CALR, GLB1, VHL, REN, KCNN4, NRAS, MMAB, ADAR, COL4A1, CBFB, ETV6, CBS, F12, MVK, CD40LG, TAZ, HRG, UBE2T, KIF1B, BCS1L, SMARCAL1, FOXP3, BRCA1, MTOR, ITGB2, IFIH1, PLEC, ELANE, TRNT1, KLF1, MUT, CFH, PEX19, TRMU, PLAU, FECH, PCCA, TERT, ATP7B, FANCA, HSPA9, HK1, CUBN, NF1, FARS2, ABCD3, BRAF, ACVRL1, DDOST, KNG1, KIT, BCR, OCLN, FAH, DDX41, IRF5, FLNA, GIF, PRKCD, VPS13A, P2RX1, ERCC6L2, TGFB1, PEPD, CXCR4, SOS2, FTH1, KMT2D, MYH9, ABCG5, ERCC4, STAT1, WAS, MT-CO2, FLT3, PTPN11, F7, ARHGAP26, FGFR2, ACTN4, TINF2, NPM1, MARS, RPL11, CPOX, PDGFRA, RAB40AL, ALPL, TF, DKC1, CD36, ACTN1, PNP, MTRR, F10, FASLG, ANK1, AP3B1, SARS2, ADA, NHP2, RPS14, VPS45, ATR, ITGB3, COL7A1, C10orf2, SERPINE1, PRKACG, GATA2

REVESZ SYNDROME, RETICULAR DYSGENESIS, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, 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, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, BARTH SYNDROME, WILSON DISEASE, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, BONE MARROW FAILURE SYNDROME 1, BLEEDING DISORDER, PLATELET-TYPE, 20, ?HEMOCHROMATOSIS, TYPE 5, NIJMEGEN BREAKAGE SYNDROME, AICARDI-GOUTIERES SYNDROME 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, INTERSTITIAL LUNG AND LIVER DISEASE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, BENT BONE DYSPLASIA SYNDROME, FECHTNER SYNDROME, 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, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, {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, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, OROTIC ACIDURIA, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, SITOSTEROLEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, BARTTER SYNDROME, TYPE 2, NIEMANN-PICK DISEASE TYPE C1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, HYPOBETALIPOPROTEINEMIA, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DYSKERATOSIS CONGENITA, X-LINKED, ATRANSFERRINEMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, BLEEDING DISORDER, PLATELET-TYPE, 15, 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], SEBASTIAN SYNDROME, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, 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}, EMBERGER SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, PELGER-HUET ANOMALY, PROLIDASE DEFICIENCY, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, HYPER-IGD SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {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, HETEROTOPIA, PERIVENTRICULAR, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, GALACTOSEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, 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, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, 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, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, LEUKEMIA, CHRONIC MYELOID, SOMATIC, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AICARDI-GOUTIERES SYNDROME 5, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, AICARDI-GOUTIERES SYNDROME 6, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DIAMOND-BLACKFAN ANEMIA 7, LIVER FAILURE, TRANSIENT INFANTILE, FANCONI ANEMIA, COMPLEMENTATION GROUP T, BONE MARROW FAILURE SYNDROME 2, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

BRCA2, FANCM, HLCS, TREX1, APOB, MMP1, SPATA5, ATRX, LBR, PGK1, MYD88, TBXA2R, DGUOK, RPL5, FTL, F2, AGT, PCCB, AK2, NLRC4, FGA, STK11, IL2RA, TERT, FH, AGK, NBN, PCCA, NPC1, TFRC, RPS19, GFI1B, CYB5R3, SMAD4, CD40, ABCB6, UMPS, CLCN7, DGKE, FANCD2, RPS28, KRAS, RUNX1, IL10, CIITA, FAS, LZTR1, GCLC, IRF5, HBA1, KNG1, PKLR, THRA, DCLRE1C, KCNJ1, CAD, SMAD9, GATA2, GPI, NOS3, BMPR1A, GALT, ABCB7, MECOM, DHFR, CBL, PSMB8, SLFN14, CCND1, JAK2, STAT1, FANCC, PFKM, AK1, SAMHD1, TMEM173, MASTL, ABCD4, CASR, FANCA, ITK, SLC22A4, PANK2, STAT3, SEC23B, ACD, GSS, BMPR2, GATA1, LARS, TF, ITGB3, VHL, REN, KCNN4, SSR4, MMAB, ADAR, CBFB, ETV6, CBS, SRP72, MVK, HLA-DRB1, TAZ, NUP214, UBE2T, KIF1B, BCS1L, SMARCAL1, BRCA1, ITGB2, IFIH1, PRKACG, TPI1, TRNT1, KLF1, MUT, PEX19, TRMU, FECH, PSTPIP1, ATP7B, HSPA9, HK1, NF1, FARS2, ABCD3, BRAF, ACVRL1, DDOST, KIT, BCR, OCLN, FAH, DDX41, NME1, FLNA, PRKCD, VPS13A, P2RX1, ERCC6L2, ABCG5, PEPD, FTH1, KMT2D, MYH9, TGFB1, ERCC4, WAS, MT-CO2, FLT3, PTPN11, YARS2, SOS1, FGFR2, ACTN4, TINF2, NPM1, MARS, RPL11, CPOX, PDGFRA, RTEL1, ALPL, CALR, DKC1, CD36, ACTN1, MTRR, F10, FASLG, SARS2, NHP2, RPS14, ATR, C10orf2, SERPINE1, MTOR

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, INCONTINENTIA PIGMENTI, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, 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, [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, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PLATELET GLYCOPROTEIN IV DEFICIENCY, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, THROMBOCYTOPENIA 4, BLEEDING DISORDER, PLATELET-TYPE, 15, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, HERMANSKY-PUDLAK SYNDROME 9, RHEUMATOID ARTHRITIS, LYMPHOPROLIFERATIVE SYNDROME 2, HYPERPARATHYROIDISM, NEONATAL, WISKOTT-ALDRICH SYNDROME, CAMURATI-ENGELMANN DISEASE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FACTOR XIIIA DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ACUTE MYELOID LEUKEMIA, M6 TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, SMITH-KINGSMORE SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

TNFSF11, KRAS, PRKCD, CBL, SMAD4, IL10, IRF5, FAS, ACTN1, IKBKG, CD36, BMPR1A, CXCR4, CD40LG, ITGB3, CASR, AGT, MYD88, TGFB1, THBD, SCARB2, FOXP3, NOS3, MTOR, ITGA2B, CD27, TPI1, FGA, FGFR2, F2, CCND1, ENG, WAS, JAK2, STAT1, RUNX1, CYCS, PTPN11, C3, FASLG, BLOC1S6, GFI1B, EPOR, F13A1, CD40, STAT3, SERPINE1, NUP214, BMPR2

{HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEMOCHROMATOSIS, TYPE 2B, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, [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, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, HERMANSKY-PUDLAK SYNDROME 9, LYMPHOPROLIFERATIVE SYNDROME 2, HYPERPARATHYROIDISM, NEONATAL, CAMURATI-ENGELMANN DISEASE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HETEROTOPIA, PERIVENTRICULAR, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

GATA1, RPL5, TNFSF11, PRKCD, SMAD4, CD40, FAS, ACTN1, TGFB1, NOS3, CXCR4, CD40LG, CCND1, CASR, AGT, NUP214, GPI, THBD, FLT3, FOXP3, BMPR1A, FLNA, CD27, TPI1, IL10, F2, THPO, RUNX1, JAK2, STAT1, PTPN11, C3, FASLG, BLOC1S6, HAMP, STAT3, SERPINE1, GATA2, BMPR2

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, SEA-BLUE HISTIOCYTE DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, REVESZ SYNDROME, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, 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-, TRICHOHEPATOENTERIC SYNDROME 1, INCONTINENTIA PIGMENTI, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, EPSTEIN SYNDROME, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LEUKOCYTE ADHESION DEFICIENCY, MAY-HEGGLIN ANOMALY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, ERYTHROCYTOSIS, FAMILIAL, 2, NEUTROPENIA, CYCLIC, WHIM SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 6, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, COMBINED FACTOR V AND VIII DEFICIENCY, 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, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, GLANZMANN THROMBASTHENIA, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ATRANSFERRINEMIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CAMURATI-ENGELMANN DISEASE, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, LYMPHOPROLIFERATIVE SYNDROME 2, HYPERPARATHYROIDISM, NEONATAL, SEBASTIAN SYNDROME, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, FACTOR XIIIA DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, NETHERTON SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, FACTOR X DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, FACTOR V DEFICIENCY, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, SMITH-KINGSMORE SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

APOE, RPL5, F5, TNFSF11, REN, APOB, IL2RA, IL10, PLAU, TTC37, SMAD4, CD40, GP1BA, HBA1, KNG1, IKBKG, C3, PKLR, CXCR4, CD40LG, FTL, ITGB3, MYH9, AGT, TGFB1, MTOR, VHL, COL7A1, CASR, NOS3, GGCX, ITGB2, SOS1, HRG, GFI1B, TPI1, FGA, BMPR2, CBL, BRCA1, STK11, ITGA2, CCND1, CD27, STAT1, F2, TF, CYCS, ACTN1, SERPINE1, F10, FASLG, FANCA, RPS19, SERPINF2, F13A1, MMP1, SPINK5, STAT3, LMAN1, ELANE, TINF2, FLNA, BCR, NPM1, MYD88

REVESZ SYNDROME, RETICULAR DYSGENESIS, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, TRIMETHYLAMINURIA, 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, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, FAVISM, BARTH SYNDROME, WILSON DISEASE, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, BONE MARROW FAILURE SYNDROME 1, BLEEDING DISORDER, PLATELET-TYPE, 20, ?HEMOCHROMATOSIS, TYPE 5, NIJMEGEN BREAKAGE SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, AICARDI-GOUTIERES SYNDROME 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, INTERSTITIAL LUNG AND LIVER DISEASE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GLANZMANN THROMBASTHENIA, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, BENT BONE DYSPLASIA SYNDROME, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, DIAMOND-BLACKFAN ANEMIA 3, 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, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, {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, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, DIAMOND-BLACKFAN ANEMIA 9, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, OROTIC ACIDURIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, SITOSTEROLEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, BARTTER SYNDROME, TYPE 2, NIEMANN-PICK DISEASE TYPE C1, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, HYPOBETALIPOPROTEINEMIA, FOLATE MALABSORPTION, HEREDITARY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, BLEEDING DISORDER, PLATELET-TYPE, 15, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, GALACTOSEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DYSKERATOSIS CONGENITA, X-LINKED, ATRANSFERRINEMIA, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, WOLFRAM SYNDROME 2, OMENN SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, 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, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, PELGER-HUET ANOMALY, PROLIDASE DEFICIENCY, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, WHIM SYNDROME, HYPER-IGD SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {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, HETEROTOPIA, PERIVENTRICULAR, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, ELLIPTOCYTOSIS-2, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, METHYLMALONIC ACIDURIA, MUT(0) TYPE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, 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 RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, SENGERS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, GLUTATHIONE SYNTHETASE DEFICIENCY, 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, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MAY-HEGGLIN ANOMALY, LESCH-NYHAN SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, LIVER FAILURE, TRANSIENT INFANTILE, FANCONI ANEMIA, COMPLEMENTATION GROUP T, BONE MARROW FAILURE SYNDROME 2, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, ISOVALERIC ACIDEMIA, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, 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, BRCA2, FANCM, HLCS, TREX1, APOB, MMP1, FMO3, SPATA5, ATRX, LBR, PGK1, MYD88, TBXA2R, DGUOK, RPL5, TUBB1, F2, AGT, PCCB, FLT3, SSR4, PIGT, AK2, NLRC4, PNPO, SPTA1, FGA, STK11, IL2RA, TERT, FH, FANCA, AGK, CYCS, NBN, SOS1, NPC1, TFRC, RPS19, GFI1B, CYB5R3, RTEL1, SMAD4, CD40, ABCB6, UMPS, CLCN7, MMAA, FANCD2, BRAF, RPS28, DGKE, FARS2, KRAS, RUNX1, IL10, CIITA, FAS, LZTR1, GCLC, IRF5, HBA1, KNG1, VWF, PKLR, PARN, DCLRE1C, KCNJ1, CAD, IKBKG, GATA2, GPI, NOS3, BMPR1A, CPOX, GALT, SLFN14, MECOM, CBL, PSMB8, RPS24, CCND1, JAK2, ACAD9, HLA-DRB1, VPS33B, FANCC, PFKM, AK1, FTL, HPRT1, SAMHD1, TMEM173, OCLN, MASTL, ABCD4, CASR, SMAD9, ABCB7, ITK, SLC22A4, PANK2, STAT3, SEC23B, ACD, TMEM165, GSS, BMPR2, GATA1, LARS, NT5C3A, ITGB3, VHL, REN, KCNN4, NRAS, MMAB, ADAR, CBFB, ETV6, CBS, SRP72, MVK, CD40LG, TAZ, NUP214, UBE2T, KIF1B, BCS1L, SMARCAL1, BRCA1, ITGB2, IFIH1, PRKACG, TPI1, TRNT1, KLF1, MUT, RBM8A, CISD2, PEX19, TRMU, PLAU, FECH, RPS10, PCCA, PSTPIP1, ATP7B, HOXA11, HSPA9, HK1, NF1, XRCC4, ABCD3, NEU1, ACVRL1, DDOST, KIT, BCR, IVD, FAH, DDX41, NME1, FLNA, PRKCD, VPS13A, SLC46A1, P2RX1, ERCC6L2, ABCG5, PEPD, CXCR4, FTH1, KMT2D, MYH9, TGFB1, ERCC4, STAT1, WAS, MT-CO2, SERPINE1, G6PD, PTPN11, YARS2, ARHGAP26, FGFR2, ACTN4, TINF2, NPM1, MARS, RPL11, THRA, PDGFRA, RAB40AL, ALPL, CALR, DKC1, CD36, ACTN1, DHFR, F10, FASLG, AP3B1, SARS2, TF, NHP2, RPS14, VPS45, PHGDH, ATR, SOS2, C10orf2, MTRR, MTOR

REVESZ SYNDROME, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CAMURATI-ENGELMANN DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, MANNOSIDOSIS, ALPHA-, TYPES I AND II, 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, DIAMOND-BLACKFAN ANEMIA 13, WILSON DISEASE, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, BONE MARROW FAILURE SYNDROME 1, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, FACTOR V DEFICIENCY, AICARDI-GOUTIERES SYNDROME 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GLANZMANN THROMBASTHENIA, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, HEMOCHROMATOSIS, TYPE 2B, DIAMOND-BLACKFAN ANEMIA 3, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, HYPOPHOSPHATASIA, INFANTILE, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, ANEMIA, SIDEROBLASTIC, 4, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, 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, DIAMOND-BLACKFAN ANEMIA 9, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, BARTTER SYNDROME, TYPE 2, [GLYOXALASE II DEFICIENCY], VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, AICARDI-GOUTIERES SYNDROME 5, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, GREENBERG SKELETAL DYSPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DIAMOND-BLACKFAN ANEMIA 8, GALACTOSEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, CYANOSIS, TRANSIENT NEONATAL, ?THROMBOXANE SYNTHASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, DYSKERATOSIS CONGENITA, X-LINKED, HYPERPARATHYROIDISM, NEONATAL, 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, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, ?DIAMOND-BLACKFAN ANEMIA 11, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HERMANSKY-PUDLAK SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IVIC SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, 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}, RETICULAR DYSGENESIS, HEREDITARY PYROPOIKILOCYTOSIS, EMBERGER SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, PELGER-HUET ANOMALY, PROLIDASE DEFICIENCY, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, OVALOCYTOSIS, SA TYPE, BLEEDING DISORDER, PLATELET-TYPE, 15, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], PEROXISOME BIOGENESIS DISORDER 3B, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, GHOSAL HEMATODIAPHYSEAL SYNDROME, WHIM SYNDROME, ERYTHROCYTOSIS, FAMILIAL, 3, SPHEROCYTOSIS, TYPE 2, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, LATHOSTEROLOSIS, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, {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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, 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, KABUKI SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, HETEROTOPIA, PERIVENTRICULAR, MAY-HEGGLIN ANOMALY, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], LEUKEMIA, CHRONIC MYELOID, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, CRYOHYDROCYTOSIS, DIAMOND-BLACKFAN ANEMIA 7, HERMANSKY-PUDLAK SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP T, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, METHYLMALONIC ACIDURIA, MUT(0) TYPE, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HERMANSKY-PUDLAK SYNDROME 7, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, 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, KCNA5, APOE, ADAMTS13, F2, HBB, APOB, MMP1, F8, RAG1, LBR, PGK1, SC5D, IKBKG, RPS7, ACTN1, RPL5, TUBB1, ALDOA, HAGH, AGT, PIGT, AK2, DKC1, SLC11A2, ITGA2B, FGA, STK11, MAN2B1, RPS14, SALL4, KLF1, TRNT1, CYCS, GALT, TFRC, RPS19, GFI1B, CYB5R3, CECR1, SMAD4, CYP7B1, RPS24, RAG2, ATRX, RUNX1, CYP4V2, FAS, LZTR1, CD40, NME1, MPI, ETV6, VWF, MLLT10, THRA, CCND1, CAD, CIITA, GATA2, HLA-DRB1, GPI, NOS3, ITGA2, CPOX, RPS29, ALAD, WHSC1L1, CBL, KCNJ1, JAK2, STAT1, VPS33B, PFKM, FTL, SLC4A1, SAMHD1, TMEM173, OCLN, ALPL, RPS10, SMAD9, LPP, COX14, STAT3, SEC23B, ACD, CUBN, HRG, BMPR2, GATA1, CP, CALR, ITGB3, VHL, REN, IL2RA, ADAR, CYP2C9, COL4A1, FGB, CBS, PEX19, CD40LG, FLNA, CASR, NUP214, UBE2T, HBG2, FOXP3, BRCA1, IFIH1, TPI1, DTNBP1, MUT, PLAU, FECH, PSTPIP1, ATP7B, FANCA, HSPA9, NF1, XRCC4, FERMT3, HAMP, BRAF, ACP5, ELANE, F5, BCR, SERPINF2, AIRE, DDX41, IRF5, SLC2A1, SLC40A1, PRKCD, KNG1, CLDN1, HBA1, PTPN11, PEX12, TNFAIP3, MUC1, KMT2D, EGLN1, MTR, AP3B1, TGFB1, NSD1, WAS, MT-CO2, SCO1, PEPD, SOS1, CYP2A6, CXCR4, ACTN4, TINF2, TNFSF11, NPM1, RPL11, B4GALT1, FANCC, RPL26, STX11, TF, CD36, SERPINE1, TBXAS1, FTH1, FANCL, MYH9, SARS2, ADA, EPOR, SRP72, P2RX1, SPTB, MYD88, MT-CO1, C10orf2, MTRR, MTOR

REVESZ SYNDROME, QUEBEC PLATELET DISORDER, CAMURATI-ENGELMANN DISEASE, NOONAN SYNDROME 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLANZMANN THROMBASTHENIA, PLATELET GLYCOPROTEIN IV DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, FECHTNER SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, RHEUMATOID ARTHRITIS, HYPERPARATHYROIDISM, NEONATAL, SEBASTIAN SYNDROME, PORENCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, EPSTEIN SYNDROME, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GALACTOSEMIA, DIAMOND-BLACKFAN ANEMIA 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

F2, APOB, IL2RA, IL10, PLAU, TGFB1, NOS3, STAT1, ITGB3, MYH9, AGT, MTOR, VHL, STAT3, COL4A1, ACTN1, GALT, FGFR2, ENG, PDGFRA, CD36, SOS1, CASR, RPS19, ACVRL1, TINF2, SERPINE1, BMPR2

REVESZ SYNDROME, RETICULAR DYSGENESIS, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, 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, AICARDI-GOUTIERES SYNDROME 7, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, BARTH SYNDROME, WILSON DISEASE, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, BONE MARROW FAILURE SYNDROME 1, BLEEDING DISORDER, PLATELET-TYPE, 20, ?HEMOCHROMATOSIS, TYPE 5, NIJMEGEN BREAKAGE SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, INTERSTITIAL LUNG AND LIVER DISEASE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GLANZMANN THROMBASTHENIA, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, BENT BONE DYSPLASIA SYNDROME, 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, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, NOONAN SYNDROME 4, OROTIC ACIDURIA, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, SITOSTEROLEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, BARTTER SYNDROME, TYPE 2, NIEMANN-PICK DISEASE TYPE C1, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, INCONTINENTIA PIGMENTI, HYPOBETALIPOPROTEINEMIA, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, BLEEDING DISORDER, PLATELET-TYPE, 15, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, GALACTOSEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DYSKERATOSIS CONGENITA, X-LINKED, ATRANSFERRINEMIA, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, 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], SEBASTIAN SYNDROME, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OMENN SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, 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, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, PELGER-HUET ANOMALY, PROLIDASE DEFICIENCY, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, WHIM SYNDROME, HYPER-IGD SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HETEROTOPIA, PERIVENTRICULAR, METHYLMALONIC ACIDURIA CBLB TYPE, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, ELLIPTOCYTOSIS-2, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, 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, SENGERS SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, GLUTATHIONE SYNTHETASE DEFICIENCY, 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, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MAY-HEGGLIN ANOMALY, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, LEUKEMIA, CHRONIC MYELOID, SOMATIC, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DIAMOND-BLACKFAN ANEMIA 7, LIVER FAILURE, TRANSIENT INFANTILE, FANCONI ANEMIA, COMPLEMENTATION GROUP T, BONE MARROW FAILURE SYNDROME 2, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 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, BRCA2, FANCM, HLCS, APOB, MMP1, SPATA5, ATRX, LBR, PGK1, IKBKG, TBXA2R, DGUOK, RPL5, FTL, F2, AGT, PCCB, SSR4, PIGT, AK2, CASR, SPTA1, FGA, STK11, IL2RA, TERT, FH, AGK, NBN, SOS1, NPC1, TFRC, RPS19, GFI1B, CYB5R3, SMAD4, CD40, ABCB6, UMPS, CLCN7, MMAA, FANCD2, RPS28, DGKE, KRAS, RUNX1, CIITA, FAS, LZTR1, GCLC, IRF5, HBA1, KNG1, ETV6, PKLR, THRA, DCLRE1C, KCNJ1, CAD, MYD88, GATA2, GPI, NOS3, BMPR1A, GALT, ABCB7, DHFR, CBL, PSMB8, SLFN14, CCND1, JAK2, STAT1, VPS33B, FANCC, PFKM, AK1, TUBB1, SAMHD1, RTEL1, MASTL, ABCD4, NLRC4, SMAD9, ITK, SLC22A4, PANK2, STAT3, SEC23B, ACD, GSS, BMPR2, GATA1, LARS, TF, ITGB3, VHL, REN, KCNN4, NRAS, MMAB, ADAR, CBFB, VWF, CBS, SRP72, MVK, HLA-DRB1, TAZ, NUP214, UBE2T, KIF1B, BCS1L, SMARCAL1, BRCA1, ITGB2, IFIH1, PRKACG, TRNT1, KLF1, MUT, PEX19, TRMU, FECH, PCCA, PSTPIP1, ATP7B, FANCA, HSPA9, HK1, NF1, FARS2, ABCD3, BRAF, ACVRL1, DDOST, KIT, BCR, OCLN, FAH, DDX41, NME1, FLNA, PRKCD, VPS13A, P2RX1, ERCC6L2, ABCG5, PEPD, CXCR4, FTH1, KMT2D, MYH9, TGFB1, ERCC4, WAS, MT-CO2, FLT3, PTPN11, YARS2, ARHGAP26, FGFR2, ACTN4, TINF2, NPM1, MARS, RPL11, CPOX, PDGFRA, RAB40AL, ALPL, CALR, DKC1, CD36, ACTN1, MTRR, F10, FASLG, AP3B1, SARS2, NHP2, RPS14, VPS45, ATR, SOS2, C10orf2, SERPINE1, MTOR

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, NEPHRONOPHTHISIS 1, JUVENILE, SCOTT SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, 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, CAMURATI-ENGELMANN DISEASE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, HETEROTOPIA, PERIVENTRICULAR, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, INCONTINENTIA PIGMENTI, BLEEDING DISORDER, PLATELET-TYPE, 15, EMBERGER SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, BARTTER SYNDROME, TYPE 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, SENIOR-LOKEN SYNDROME-1, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, FACTOR V DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?BLEEDING DISORDER, PLATELET-TYPE, 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ATRANSFERRINEMIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, HYPOBETALIPOPROTEINEMIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, OROTIC ACIDURIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, HYPERPARATHYROIDISM, NEONATAL, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, INFANTILE, STORMORKEN SYNDROME, EPSTEIN SYNDROME, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SEA-BLUE HISTIOCYTE DISEASE, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, IMMUNODEFICIENCY 10, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

KCNA5, CA2, APOE, STIM1, NME1, F2, REN, PRKCD, CHIC2, NPHP1, IL2RA, IKBKG, NOS3, CD40LG, KLF1, MYH9, AGT, TGFB1, RYR1, UMPS, ACTN1, FLNA, MTOR, PTPN11, APOB, MECOM, CCND1, PRKACG, KCNJ1, KCNN4, PIEZO1, CACNA1S, STX11, TF, GATA2, SERPINE1, PRF1, ALPL, CASR, KRAS, CALR, KNG1, OCLN, P2RX1, BRAF, STAT3, MYD88, BMPR2, CLCN7, F5, ACD, BCR, ANO6, MT-CO1

WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 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, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, VON WILLEBRAND DISEASE, TYPE 1, 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, DIAMOND-BLACKFAN ANEMIA 8, HEMOCHROMATOSIS, TYPE 2B, COMBINED FACTOR V AND VIII DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, FACTOR VII DEFICIENCY, 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, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPOBETALIPOPROTEINEMIA, HEMOPHILIA B, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, CAMURATI-ENGELMANN DISEASE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IRON-REFRACTORY IRON DEFICIENCY ANEMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, QUEBEC PLATELET DISORDER, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, FACTOR XIIIA DEFICIENCY, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, FACTOR XII DEFICIENCY, SEA-BLUE HISTIOCYTE DISEASE, FACTOR X DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, F5, TMPRSS6, F13A1, APOB, RUNX1, PLAU, SMAD4, CD40, NME1, VWF, F9, TGFB1, F12, NOS3, CD40LG, F2, KNG1, AGT, MTOR, STAT3, F8, GGCX, ITGB2, ELANE, FGA, CBL, LMAN1, CFI, MMP1, NEU1, C3, F10, TERT, ADA, RPS7, GP9, HAMP, F7, CD46, HLA-DQA1, SERPINE1, CFB

REVESZ SYNDROME, RETICULAR DYSGENESIS, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, 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, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, BARTH SYNDROME, WILSON DISEASE, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, BONE MARROW FAILURE SYNDROME 1, BLEEDING DISORDER, PLATELET-TYPE, 20, ?HEMOCHROMATOSIS, TYPE 5, NIJMEGEN BREAKAGE SYNDROME, AICARDI-GOUTIERES SYNDROME 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, INTERSTITIAL LUNG AND LIVER DISEASE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, BENT BONE DYSPLASIA SYNDROME, FECHTNER SYNDROME, 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, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, {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, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, OROTIC ACIDURIA, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, SITOSTEROLEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, BARTTER SYNDROME, TYPE 2, NIEMANN-PICK DISEASE TYPE C1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, HYPOBETALIPOPROTEINEMIA, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DYSKERATOSIS CONGENITA, X-LINKED, ATRANSFERRINEMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, BLEEDING DISORDER, PLATELET-TYPE, 15, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, 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], SEBASTIAN SYNDROME, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, 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}, EMBERGER SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, PELGER-HUET ANOMALY, PROLIDASE DEFICIENCY, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, HYPER-IGD SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HETEROTOPIA, PERIVENTRICULAR, METHYLMALONIC ACIDURIA CBLB TYPE, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, GALACTOSEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, 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, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, 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, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, LEUKEMIA, CHRONIC MYELOID, SOMATIC, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AICARDI-GOUTIERES SYNDROME 5, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, AICARDI-GOUTIERES SYNDROME 6, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DIAMOND-BLACKFAN ANEMIA 7, LIVER FAILURE, TRANSIENT INFANTILE, FANCONI ANEMIA, COMPLEMENTATION GROUP T, BONE MARROW FAILURE SYNDROME 2, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

BRCA2, FANCM, HLCS, APOB, MMP1, SPATA5, ATRX, LBR, PGK1, MYD88, TBXA2R, DGUOK, RPL5, FTL, F2, AGT, PCCB, AK2, CASR, FGA, STK11, IL2RA, TERT, FH, AGK, NBN, PCCA, NPC1, TFRC, RPS19, GFI1B, ADAR, CD40, ABCB6, UMPS, CLCN7, DGKE, FANCD2, RPS28, KRAS, RUNX1, CIITA, FAS, LZTR1, GCLC, IRF5, HBA1, KNG1, PKLR, THRA, DCLRE1C, KCNJ1, CAD, SMAD9, GATA2, GPI, NOS3, BMPR1A, GALT, ABCB7, DHFR, CBL, PSMB8, SLFN14, CCND1, JAK2, STAT1, FANCC, PFKM, AK1, SAMHD1, MASTL, ABCD4, NLRC4, FANCA, ITK, SLC22A4, PANK2, STAT3, SEC23B, ACD, GSS, BMPR2, GATA1, LARS, TF, ITGB3, VHL, REN, KCNN4, SSR4, MMAB, SMAD4, CBFB, ETV6, CBS, SRP72, MVK, HLA-DRB1, TAZ, NUP214, UBE2T, KIF1B, BCS1L, SMARCAL1, BRCA1, ITGB2, IFIH1, PRKACG, TRNT1, KLF1, MUT, PEX19, TRMU, FECH, PSTPIP1, ATP7B, HSPA9, HK1, NF1, FARS2, ABCD3, BRAF, ACVRL1, DDOST, KIT, BCR, OCLN, FAH, DDX41, NME1, FLNA, PRKCD, VPS13A, P2RX1, ERCC6L2, ABCG5, PEPD, FTH1, KMT2D, MYH9, TGFB1, ERCC4, WAS, MT-CO2, FLT3, PTPN11, YARS2, SOS1, FGFR2, ACTN4, TINF2, NPM1, MARS, RPL11, CPOX, PDGFRA, RTEL1, ALPL, CALR, DKC1, CD36, ACTN1, MTRR, F10, FASLG, SARS2, NHP2, RPS14, ATR, C10orf2, SERPINE1, MTOR

OROTIC ACIDURIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, FANCONI ANEMIA, COMPLEMENTATION GROUP A, CAMURATI-ENGELMANN DISEASE, ANEMIA, SIDEROBLASTIC, 4, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, [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, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MYELOPEROXIDASE DEFICIENCY, HYPERPARATHYROIDISM, NEONATAL, QUEBEC PLATELET DISORDER, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PROPIONICACIDEMIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SEA-BLUE HISTIOCYTE DISEASE, FACTOR X DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 17, GLUTATHIONE SYNTHETASE DEFICIENCY, IVIC SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, KNG1, F2, APOB, IL2RA, FGFR2, PLAU, GP1BA, VWF, TGFB1, NOS3, CXCR4, RPL5, HLCS, CASR, AGT, GSS, STAT3, THBD, FLT3, ACTN1, GGCX, MTOR, SOS1, GFI1B, ELANE, FGA, FCGR2B, MMP1, CCND1, JAK2, SALL4, STAT1, UMPS, CALR, C3, MPO, CUBN, F10, PCCA, FASLG, FANCA, HSPA9, GPX1, CECR1, CAD, CFH, COL7A1, PTPN11, SERPINE1, HRG, BMPR2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, THROMBOCYTHEMIA 3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GHOSAL HEMATODIAPHYSEAL SYNDROME, METHEMOGLOBINEMIA, TYPE IV, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, CYANOSIS, TRANSIENT NEONATAL, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?THROMBOXANE SYNTHASE DEFICIENCY, [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, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, SICKLE CELL ANEMIA, HYPERPARATHYROIDISM, NEONATAL, LATHOSTEROLOSIS, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MYELOPEROXIDASE DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, DIAMOND-BLACKFAN ANEMIA 9, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

CYP2C9, F2, HBB, IL2RA, CYP4V2, MT-CO2, HBA1, ABCB6, NOS3, RPL5, CASR, SMAD9, HRG, CYB5A, HBG2, PTPN11, CYP2A6, FGA, KLF1, JAK2, SC5D, FECH, CBS, CYCS, MPO, TBXAS1, RPS10, CYB5R3, CYP7B1, ELANE, MT-CO1

REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, BARTH SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, FECHTNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, 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, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, BENT BONE DYSPLASIA SYNDROME, HYPOBETALIPOPROTEINEMIA, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, GREENBERG SKELETAL DYSPLASIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, ATRANSFERRINEMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETICULAR DYSGENESIS, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, PELGER-HUET ANOMALY, PROLIDASE DEFICIENCY, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, HYPER-IGD SYNDROME, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PLATELET GLYCOPROTEIN IV DEFICIENCY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, 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, GALACTOSEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, ?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, SENGERS SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {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, HETEROTOPIA, PERIVENTRICULAR, GLANZMANN THROMBASTHENIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, KABUKI SYNDROME 1, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

KCNA5, APOE, F2, APOB, MMP1, LBR, PGK1, CIITA, BMPR1A, DGUOK, ALPL, AGT, AK2, STK11, ENG, KCNN4, FH, AGK, TFRC, GFI1B, CD40, UMPS, PRKACG, DGKE, XRCC4, KRAS, RUNX1, NME1, NOS3, CAD, MYD88, GATA2, ACTN1, GALT, CBL, CCND1, JAK2, PFKM, SAMHD1, MASTL, FANCA, ITK, PANK2, WAS, PKLR, SEC23B, ACD, BMPR2, GATA1, ITGB3, DKC1, IL2RA, SMAD4, CBFB, ETV6, SMAD9, MVK, STAT1, FLNA, TAZ, VHL, BCS1L, BRCA1, MTOR, ITGB2, KLF1, MUT, PSTPIP1, RPS19, HK1, NF1, F13A1, ACVRL1, DDOST, KIT, BCR, FAH, TNFSF11, PRKCD, KNG1, TGFB1, PTPN11, FTH1, KMT2D, MYH9, STAT3, FLT3, PEPD, SOS1, FGFR2, ACTN4, BRAF, NPM1, FASTKD2, PDGFRA, TF, CD36, F10, FASLG, OCLN, RPS14, ATR, TINF2, SERPINE1, AK1

CAMURATI-ENGELMANN DISEASE, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, FAVISM, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, [GLYOXALASE II DEFICIENCY], AICARDI-GOUTIERES SYNDROME 5, SECKEL SYNDROME 1, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, DYSKERATOSIS CONGENITA, X-LINKED, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, YUNIS-VARON SYNDROME, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, PROLIDASE DEFICIENCY, NIEMANN-PICK DISEASE, TYPE A, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, DIAMOND-BLACKFAN ANEMIA 7, WHIM SYNDROME, GLYCOGEN STORAGE DISEASE IA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, POIKILODERMA WITH NEUTROPENIA, 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, 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 HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, AICARDI-GOUTIERES SYNDROME 6, OMENN SYNDROME, QUEBEC PLATELET DISORDER, AICARDI-GOUTIERES SYNDROME 4, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME

C3AR1, NEU1, HLCS, TREX1, APOB, PICALM, RAG1, PGK1, CYCS, ACTN1, RNASEH2A, AGT, G6PC3, BAAT, DNASE1, PSTPIP1, USB1, TRNT1, G6PC, PRKACG, FIG4, ACP2, RUNX1, CBL, PLAU, NME1, FERMT3, NOS3, PARN, DCLRE1C, HAGH, JAK2, IL10, CCND1, ABCB7, RPL5, VPS33B, PFKM, SAMHD1, FANCA, WAS, BPGM, CUBN, FANCM, BMPR2, GATA1, LARS, CALR, ALPL, DKC1, SMPD1, ADAR, STAT1, CASR, BRCA1, MTOR, TPI1, SH3GL1, TERT, HSPA9, HK1, XRCC4, PTPN22, ACP5, KIT, IRF5, TNFSF11, KNG1, TGFB1, PTPN11, CXCR4, TNFAIP3, ERCC4, STAT3, MT-CO2, G6PD, PEPD, ATRX, SOS1, FCGR2B, ACTN4, NPM1, RPL11, NT5C3A, FASLG, ATR, C10orf2, SERPINE1, RYR1

FACTOR V DEFICIENCY, CAMURATI-ENGELMANN DISEASE, NEPHRONOPHTHISIS 1, JUVENILE, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPHEROCYTOSIS, TYPE 4, WILSON DISEASE, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LYSINURIC PROTEIN INTOLERANCE, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, TRANSALDOLASE DEFICIENCY, FECHTNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, STORMORKEN SYNDROME, GLYCOGEN STORAGE DISEASE XII, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, BARTTER SYNDROME, TYPE 2, INCONTINENTIA PIGMENTI, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, METHEMOGLOBINEMIA, TYPE IV, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, ATRANSFERRINEMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HERMANSKY-PUDLAK SYNDROME 2, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP C, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, HEREDITARY PYROPOIKILOCYTOSIS, EMBERGER SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, OVALOCYTOSIS, SA TYPE, BLEEDING DISORDER, PLATELET-TYPE, 15, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, NOONAN SYNDROME 4, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, SENIOR-LOKEN SYNDROME-1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, CRYOHYDROCYTOSIS, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, ELLIPTOCYTOSIS-2, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, RENAL TUBULAR ACIDOSIS, DISTAL, AR, HYPERPARATHYROIDISM, NEONATAL, GLYCOGEN STORAGE DISEASE IC, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, SCOTT SYNDROME, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, 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}, MAY-HEGGLIN ANOMALY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, HETEROTOPIA, PERIVENTRICULAR, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, IMMUNODEFICIENCY 10, SMITH-KINGSMORE SYNDROME

CA2, APOE, F2, SPTA1, F5, IKBKG, BMPR1A, ANK1, SLC35A1, ALPL, AGT, SLC11A2, REN, FGA, RPS14, COX6B1, COX8A, GATA2, CYCS, TFRC, FGG, SLC4A4, CD40, UMPS, PRKACG, CYB5R3, APOB, KRAS, RUNX1, HBA1, SLC30A10, NOS3, KCNJ1, MYD88, RYR1, CYB5A, ACTN1, MECOM, CLCN7, CCND1, RHAG, SLC25A13, COX4I2, TCIRG1, SLC4A1, CASR, SLC7A7, TALDO1, SLC22A4, STAT3, BRAF, ACD, BMPR2, KCNA5, LARS, STIM1, PFKM, ALDOA, SLC35A2, KCNN4, SMAD4, SFXN4, SMAD9, SLC25A15, SLC29A3, STAT1, SLC2A1, SLC19A2, BCS1L, KLF1, PIEZO1, SLC37A4, ATP7B, HSPA9, ACVRL1, DDOST, BCR, KNG1, FLNA, SLC40A1, PRKCD, CHIC2, NPHP1, TGFB1, PTPN11, AP3B1, MT-CO2, SOS1, ANO6, FANCC, CACNA1S, STX11, TF, PEX19, MYH9, CALR, P2RX1, MT-CO1, SERPINE1, MTOR

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, NEPHRONOPHTHISIS 1, JUVENILE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, 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, CAMURATI-ENGELMANN DISEASE, HEREDITARY PYROPOIKILOCYTOSIS, SPHEROCYTOSIS, TYPE 3, TRANSALDOLASE DEFICIENCY, ANEMIA, SIDEROBLASTIC, 4, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BARTTER SYNDROME, TYPE 2, ELLIPTOCYTOSIS-2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, BLEEDING DISORDER, PLATELET-TYPE, 15, SENIOR-LOKEN SYNDROME-1, FECHTNER SYNDROME, METHEMOGLOBINEMIA, TYPE IV, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ATRANSFERRINEMIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, THROMBOCYTOPENIA 4, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, HYPOBETALIPOPROTEINEMIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEMOCHROMATOSIS, TYPE 4, WILSON DISEASE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 1, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, INFANTILE, STORMORKEN SYNDROME, EPSTEIN SYNDROME, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, GLYCOGEN STORAGE DISEASE XII, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HERMANSKY-PUDLAK SYNDROME 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HETEROTOPIA, PERIVENTRICULAR, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 10, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, GLYCOGEN STORAGE DISEASE VII, FANCONI ANEMIA, COMPLEMENTATION GROUP C

KCNA5, CA2, APOB, STIM1, PFKM, ALDOA, SLC40A1, REN, PRKCD, COX4I2, CD40, CHIC2, NPHP1, KNG1, TGFB1, FLNA, ACTN1, ANK1, CCND1, MYH9, AGT, SMAD9, RYR1, CYB5A, MT-CO2, PTPN11, SLC11A2, SOS1, SPTA1, CALR, F2, KCNJ1, KCNN4, COX6B1, FANCC, RHAG, CACNA1S, TALDO1, COX8A, TCIRG1, CYCS, ALPL, ATP7B, AP3B1, HSPA9, TF, CYB5R3, STX11, P2RX1, FGG, STAT3, DDOST, BMPR2, PRKACG, ACD, BCR, SLC4A4, MT-CO1

FACTOR V DEFICIENCY, CAMURATI-ENGELMANN DISEASE, NEPHRONOPHTHISIS 1, JUVENILE, ANEMIA, SIDEROBLASTIC, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, BARTTER SYNDROME, TYPE 2, SPHEROCYTOSIS, TYPE 4, WILSON DISEASE, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LYSINURIC PROTEIN INTOLERANCE, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, TRANSALDOLASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, 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, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, STORMORKEN SYNDROME, GLYCOGEN STORAGE DISEASE XII, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 15, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, NIEMANN-PICK DISEASE TYPE C1, INCONTINENTIA PIGMENTI, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, METHEMOGLOBINEMIA, TYPE IV, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, CYANOSIS, TRANSIENT NEONATAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PYRUVATE KINASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, ATRANSFERRINEMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP C, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, HEREDITARY PYROPOIKILOCYTOSIS, EMBERGER SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, HETEROTOPIA, PERIVENTRICULAR, OVALOCYTOSIS, SA TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, NOONAN SYNDROME 4, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, SENIOR-LOKEN SYNDROME-1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, CRYOHYDROCYTOSIS, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, ELLIPTOCYTOSIS-2, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, RENAL TUBULAR ACIDOSIS, DISTAL, AR, HYPERPARATHYROIDISM, NEONATAL, GLYCOGEN STORAGE DISEASE IC, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, SCOTT SYNDROME, 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, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DIAMOND-BLACKFAN ANEMIA 7, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, IMMUNODEFICIENCY 10, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, SPHEROCYTOSIS, TYPE 2, SMITH-KINGSMORE SYNDROME

CA2, APOE, F2, HBB, SPTA1, MMP1, F5, IKBKG, BMPR1A, RPL5, SLC35A1, ALPL, AGT, NPC1, SLC11A2, REN, FGA, RPS14, COX6B1, COX8A, GATA2, CYCS, COG6, TFRC, FGG, SLC4A4, CD40, UMPS, PRKACG, CYB5R3, APOB, KRAS, RUNX1, HBA1, SLC30A10, PKLR, KCNJ1, MYD88, RYR1, CYB5A, ACTN1, MECOM, CLCN7, CCND1, ANK1, RHAG, SLC25A13, COX4I2, TCIRG1, C3, CASR, SLC7A7, TALDO1, SLC22A4, STAT3, BRAF, ACD, BMPR2, KCNA5, LARS, STIM1, PFKM, ALDOA, SLC4A1, SLC35A2, KCNN4, SMAD4, HBG2, SFXN4, SMAD9, SLC25A15, SLC29A3, STAT1, FLNA, SLC19A2, NUP214, BCS1L, FOXP3, KLF1, COG4, SLC37A4, ATP7B, HSPA9, MTTP, ACVRL1, DDOST, BCR, SSR4, KNG1, SLC2A1, SLC40A1, PRKCD, CHIC2, NPHP1, TGFB1, RFT1, PTPN11, MYH9, ABCB6, MT-CO2, NOS3, SOS1, ACTN4, ANO6, RPL11, FANCC, CACNA1S, STX11, PIEZO1, TF, PEX19, AP3B1, CALR, P2RX1, SPTB, MT-CO1, SERPINE1, MTOR

REVESZ SYNDROME, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CAMURATI-ENGELMANN DISEASE, NEPHRONOPHTHISIS 1, JUVENILE, 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, BARTH SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HERMANSKY-PUDLAK SYNDROME 1, SPHEROCYTOSIS, TYPE 1, STORMORKEN SYNDROME, 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, 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 21, SPHEROCYTOSIS, TYPE 3, INCONTINENTIA PIGMENTI, FOLATE MALABSORPTION, HEREDITARY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, SPHEROCYTOSIS, TYPE 2, PYRUVATE KINASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, DYSKERATOSIS CONGENITA, X-LINKED, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, SEBASTIAN SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, HEREDITARY PYROPOIKILOCYTOSIS, EMBERGER SYNDROME, SHWACHMAN-DIAMOND SYNDROME, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, OVALOCYTOSIS, SA TYPE, BLEEDING DISORDER, PLATELET-TYPE, 15, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, 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, 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, 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, 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, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, {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, HETEROTOPIA, PERIVENTRICULAR, GLANZMANN THROMBASTHENIA, THROMBOCYTOPENIA 4, NEPHRONOPHTHISIS 11, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, SEA-BLUE HISTIOCYTE DISEASE, CHEDIAK-HIGASHI SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, IMMUNODEFICIENCY 10, SECKEL SYNDROME 1, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

CA2, KCNA5, APOE, BRCA2, SPTA1, ATRX, FAS, IKBKG, BMPR1A, RPL5, TUBB1, ALDOA, AGT, ITGA2B, DNASE1, GATA2, CYCS, SOS1, TFRC, BLOC1S6, GFI1B, SBDS, UMPS, PRKACG, KRAS, CBL, LZTR1, NME1, LYST, NOS3, CPOX, MYD88, RYR1, CRIPT, ACTN1, ITGA2, IL10, CCND1, JAK2, STAT1, RHAG, PFKM, FTL, SLC4A1, CASR, FANCA, LPP, WAS, CUBN, GATA1, STIM1, ITGB3, DKC1, SMAD4, HLA-DRB1, FLNA, TAZ, VHL, KIF1B, BRCA1, ITGB2, PLEC, TPI1, DTNBP1, FASLG, PSTPIP1, NF1, KIT, TNFSF11, PRKCD, SLC46A1, NPHP1, TGFB1, PTPN11, CXCR4, B4GALT1, AP3B1, ERCC4, STAT3, PKLR, ARHGAP26, ACTN4, TINF2, PUS1, CALR, F10, TMEM67, ANK1, MYH9, OCLN, VPS45, ATR, SPTB, C10orf2, MTRR, MTOR

REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, BARTH SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, FECHTNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, 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, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, GREENBERG SKELETAL DYSPLASIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, ATRANSFERRINEMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, GLYCOGEN STORAGE DISEASE IA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, FACTOR X DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 17, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, PELGER-HUET ANOMALY, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, HYPER-IGD SYNDROME, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PLATELET GLYCOPROTEIN IV DEFICIENCY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, GALACTOSEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, ?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, SENGERS SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {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, HETEROTOPIA, PERIVENTRICULAR, GLANZMANN THROMBASTHENIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, LEUKEMIA, CHRONIC MYELOID, SOMATIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, KABUKI SYNDROME 1, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

KCNA5, APOE, F2, MMP1, LBR, MYD88, BMPR1A, ALPL, AGT, STK11, ENG, FH, AGK, G6PC, TFRC, GFI1B, CD40, PRKACG, NF1, XRCC4, KRAS, RUNX1, NME1, NOS3, CAD, GATA2, ACTN1, GALT, CBL, CCND1, JAK2, PFKM, MASTL, FANCA, ITK, PANK2, WAS, SEC23B, ACD, BMPR2, GATA1, ITGB3, IL2RA, SMAD4, CBFB, ETV6, SMAD9, MVK, STAT1, FLNA, TAZ, VHL, BRCA1, ITGB2, KLF1, MUT, PSTPIP1, RPS19, HK1, DGKE, F13A1, ACVRL1, DDOST, KIT, BCR, FAH, TNFSF11, PRKCD, KNG1, TGFB1, PTPN11, FTH1, KMT2D, MYH9, STAT3, FLT3, PKLR, SOS1, FGFR2, ACTN4, BRAF, NPM1, FASTKD2, PDGFRA, TF, CD36, F10, FASLG, OCLN, ATR, TINF2, SERPINE1, MTOR

REVESZ SYNDROME, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CAMURATI-ENGELMANN DISEASE, ANEMIA, SIDEROBLASTIC, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, BARTH SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?HEMOCHROMATOSIS, TYPE 5, NIJMEGEN BREAKAGE SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, FECHTNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, 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, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, BENT BONE DYSPLASIA SYNDROME, HYPOBETALIPOPROTEINEMIA, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, GREENBERG SKELETAL DYSPLASIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, ATRANSFERRINEMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, HYPER-IGD SYNDROME, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETICULAR DYSGENESIS, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, PELGER-HUET ANOMALY, PROLIDASE DEFICIENCY, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, WHIM SYNDROME, GLYCOGEN STORAGE DISEASE IA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HETEROTOPIA, PERIVENTRICULAR, PLATELET GLYCOPROTEIN IV DEFICIENCY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, 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, GALACTOSEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, ?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, SENGERS SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {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, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, LEUKEMIA, CHRONIC MYELOID, SOMATIC, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, KABUKI SYNDROME 1, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, FANCONI ANEMIA, COMPLEMENTATION GROUP C, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

KCNA5, APOE, TRNT1, F2, APOB, MMP1, LBR, PGK1, CIITA, PKLR, DGUOK, FTL, ALPL, AGT, AK2, STK11, ENG, KCNN4, TERT, FH, AGK, G6PC, NBN, TFRC, RPS19, GFI1B, SMAD4, CD40, UMPS, PRKACG, DGKE, FANCD2, F13A1, KRAS, RUNX1, NME1, ACTN1, NOS3, CAD, MYD88, GATA2, BMPR1A, GALT, CBL, CCND1, JAK2, PDGFRA, PFKM, SAMHD1, MASTL, FANCA, ITK, PANK2, WAS, SEC23B, ACD, BMPR2, GATA1, TF, ITGB3, DKC1, IL2RA, ADAR, CBFB, ETV6, SMAD9, MVK, STAT1, FLNA, TAZ, VHL, BCS1L, KIF1B, BRCA1, MTOR, ITGB2, KLF1, MUT, PSTPIP1, HSPA9, HK1, NF1, XRCC4, ACVRL1, DDOST, KIT, BCR, FAH, TNFSF11, PRKCD, KNG1, TGFB1, PEPD, CXCR4, FTH1, KMT2D, MYH9, STAT3, FLT3, PTPN11, SOS1, FGFR2, ACTN4, BRAF, NPM1, FASTKD2, FANCC, DPAGT1, CD36, F10, FASLG, OCLN, RPS14, ATR, TINF2, SERPINE1, AK1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ERYTHROCYTOSIS, FAMILIAL, 3, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, VON WILLEBRAND DISEASE, TYPE 1, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, SECKEL SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, FOLATE MALABSORPTION, HEREDITARY, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, DIAMOND-BLACKFAN ANEMIA 9, PRIMARY PULMONARY HYPERTENSION, HYPOBETALIPOPROTEINEMIA, QUEBEC PLATELET DISORDER, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], CAMURATI-ENGELMANN DISEASE, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, HYPERPARATHYROIDISM, NEONATAL, PORENCEPHALY 1, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ANEMIA, SIDEROBLASTIC, 1, PLATELET GLYCOPROTEIN IV DEFICIENCY, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, GLYCOGEN STORAGE DISEASE XII, GLUTATHIONE SYNTHETASE DEFICIENCY, TRIMETHYLAMINURIA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

KCNA5, HLCS, PFKM, F2, APOB, PLAU, SLC46A1, FMO3, ATR, KNG1, VWF, TGFB1, NOS3, CD40LG, FTL, ALDOA, CASR, AGT, MYD88, GSS, MT-CO2, GPX1, YARS2, PCCA, ELANE, EGLN1, F8, MUT, COL4A1, FTCD, TF, CBS, CD36, DHFR, RPS10, FGG, ALAS2, GCLC, CAD, STAT3, ACD, SERPINE1, MTOR

{HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, SEA-BLUE HISTIOCYTE DISEASE, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, CAMURATI-ENGELMANN DISEASE, ANEMIA, SIDEROBLASTIC, 4, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, DIAMOND-BLACKFAN ANEMIA 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, 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, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RHEUMATOID ARTHRITIS, HYPERPARATHYROIDISM, NEONATAL, QUEBEC PLATELET DISORDER, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, MYELOPEROXIDASE DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, BLEEDING DISORDER, PLATELET-TYPE, 17, SMITH-KINGSMORE SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

FGFR2, APOE, RPL5, KNG1, F2, APOB, IL2RA, FCGR2B, PLAU, GP1BA, TGFB1, NOS3, CXCR4, CD40LG, NLRC4, AGT, HRG, STAT3, THBD, FLT3, CASR, ACTN1, BRCA1, SOS1, GFI1B, ELANE, FGA, IL10, GGCX, CCND1, ENG, JAK2, STAT1, MMP1, CALR, C3, MPO, CUBN, F10, FASLG, FANCA, HSPA9, CECR1, CFH, PTPN11, SERPINE1, MTOR, COL7A1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, NEPHRONOPHTHISIS 1, JUVENILE, SCOTT SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, 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, CAMURATI-ENGELMANN DISEASE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, HETEROTOPIA, PERIVENTRICULAR, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, INCONTINENTIA PIGMENTI, BLEEDING DISORDER, PLATELET-TYPE, 15, EMBERGER SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, BARTTER SYNDROME, TYPE 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, SENIOR-LOKEN SYNDROME-1, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, FACTOR V DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?BLEEDING DISORDER, PLATELET-TYPE, 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ATRANSFERRINEMIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, HYPOBETALIPOPROTEINEMIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, OROTIC ACIDURIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, HYPERPARATHYROIDISM, NEONATAL, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, INFANTILE, STORMORKEN SYNDROME, EPSTEIN SYNDROME, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SEA-BLUE HISTIOCYTE DISEASE, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, IMMUNODEFICIENCY 10, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

KCNA5, CA2, APOE, STIM1, NME1, F2, REN, PRKCD, CHIC2, NPHP1, IL2RA, IKBKG, NOS3, CD40LG, KLF1, MYH9, AGT, TGFB1, RYR1, UMPS, ACTN1, FLNA, MTOR, PTPN11, APOB, MECOM, CCND1, PRKACG, KCNJ1, KCNN4, PIEZO1, CACNA1S, STX11, TF, GATA2, SERPINE1, PRF1, ALPL, CASR, KRAS, CALR, KNG1, OCLN, P2RX1, BRAF, STAT3, MYD88, BMPR2, CLCN7, F5, ACD, BCR, ANO6, MT-CO1