HEMATOLOGY

WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HEMOPHILIA B, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, FACTOR V DEFICIENCY, FACTOR X DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, FACTOR VII DEFICIENCY

F9, F2, F8, F5, F7, GGCX, F10

RHEUMATOID ARTHRITIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {CELIAC DISEASE, SUSCEPTIBILITY TO}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

HLA-DQB1, CD3G, HLA-DRB1, STAT1, HLA-DQA1, PTPN11

GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, THROMBOCYTHEMIA 3, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PLATELET GLYCOPROTEIN IV 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, GLANZMANN THROMBASTHENIA, ATRANSFERRINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CAMURATI-ENGELMANN DISEASE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], FACTOR XIIIA DEFICIENCY, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, GLYCOGEN STORAGE DISEASE XII, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, FACTOR V DEFICIENCY, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CALR, ALDOA, VWF, IL2RA, F5, FGB, TGFB1, CD36, ACTN1, STAT1, ITGB3, KNG1, AGT, HRG, F8, NOS3, FLNA, ITGA2B, FGA, ACTN4, JAK2, TF, F2, FGG, SERPINF2, F13A1, SERPINE1

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PLEC, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, MTOR, STAT3, ACTN1, ITGA2B, KRAS, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, SOS1, FGG, NF1, SPTB, BRAF, KIT, SERPINE1, SOS2

MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 8, DIAMOND-BLACKFAN ANEMIA 3, DIAMOND-BLACKFAN ANEMIA 10, ?DIAMOND-BLACKFAN ANEMIA 12, DIAMOND-BLACKFAN ANEMIA 6, DIAMOND-BLACKFAN ANEMIA 1, DIAMOND-BLACKFAN ANEMIA 7, DIAMOND-BLACKFAN ANEMIA 5, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND-BLACKFAN ANEMIA 9

RPL5, RPS10, RPS26, RPS19, RPL11, RPS7, RPS14, RPL26, RPS17, RPS28, RPL15, RPS24, RPS29, RPL35A

WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, ANEMIA, SIDEROBLASTIC, 4, MEDULLARY CYSTIC KIDNEY DISEASE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GM1-GANGLIOSIDOSIS, TYPE II, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, COMBINED FACTOR V AND VIII DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE III, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHILIA B, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CAMURATI-ENGELMANN DISEASE, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PORENCEPHALY 1, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, IMMUNODEFICIENCY 23, HETEROTOPIA, PERIVENTRICULAR, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, SEA-BLUE HISTIOCYTE DISEASE, FACTOR X DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 1, FACTOR V DEFICIENCY, SMITH-KINGSMORE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

PIGA, APOE, NEU1, GLB1, KRAS, APOB, PRKCD, MPI, SMAD4, F7, GP1BA, VWF, DPAGT1, F8, PIGT, F9, TGFB1, C3, NOS3, RPL5, MUC1, SLC35A1, FLNA, PMM2, LMAN1, COL4A1, MGAT2, ACTN1, GGCX, ITGB2, SOS1, NUP214, GFI1B, CCND1, CBL, BRCA1, F2, HSPA9, DPM1, NPM1, SRD5A3, STAT1, PGM3, B4GALT1, ADAMTS13, RFT1, ALG2, SERPINE1, F10, MPDU1, RPS19, CALR, ALG6, XRCC4, PIGM, STAT3, DDOST, F5, DHFR, ALG13, MTOR, VKORC1

LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, PORENCEPHALY 1, CAMURATI-ENGELMANN DISEASE, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, GLANZMANN THROMBASTHENIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, VON WILLEBRAND DISEASE, TYPE 1, HYPOBETALIPOPROTEINEMIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BLEEDING DISORDER, PLATELET-TYPE, 17, VON WILLIBRAND DISEASE, TYPE 3, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGA, FASLG, F2, ITGB3, GFI1B, FGG, APOB, COL4A1, FGB, NOS3, CALR, ITGB2, ITGA2B, TGFB1, VWF, COL7A1, ITGA2

MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 8, DIAMOND-BLACKFAN ANEMIA 3, DIAMOND-BLACKFAN ANEMIA 10, ?DIAMOND-BLACKFAN ANEMIA 12, DIAMOND-BLACKFAN ANEMIA 6, DIAMOND-BLACKFAN ANEMIA 1, DIAMOND-BLACKFAN ANEMIA 7, DIAMOND-BLACKFAN ANEMIA 5, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND-BLACKFAN ANEMIA 9

RPL5, RPS10, RPS26, RPS19, RPL11, RPS7, RPS14, RPL26, RPS17, RPS28, RPL15, RPS24, RPS29, RPL35A

BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, GLANZMANN THROMBASTHENIA, VON WILLEBRAND DISEASE, TYPE 1, VON WILLIBRAND DISEASE, TYPE 3, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGA, F2, ITGB3, FGG, FGB, VWF, ITGA2B

MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 8, DIAMOND-BLACKFAN ANEMIA 3, DIAMOND-BLACKFAN ANEMIA 10, ?DIAMOND-BLACKFAN ANEMIA 12, DIAMOND-BLACKFAN ANEMIA 6, DIAMOND-BLACKFAN ANEMIA 1, DIAMOND-BLACKFAN ANEMIA 7, DIAMOND-BLACKFAN ANEMIA 5, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND-BLACKFAN ANEMIA 9

RPL5, RPS10, RPS26, RPS19, RPL11, RPS7, RPS14, RPL26, RPS17, RPS28, RPL15, RPS24, RPS29, RPL35A

THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, EPSTEIN SYNDROME, FECHTNER SYNDROME, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, WISKOTT-ALDRICH SYNDROME, SEBASTIAN SYNDROME, INCONTINENTIA PIGMENTI, {CELIAC DISEASE, SUSCEPTIBILITY TO}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MAY-HEGGLIN ANOMALY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

CBL, CD3G, MYH9, HLA-DRB1, ITK, HLA-DQB1, WAS, HLA-DQA1, IKBKG, PTPN11

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, COPROPORPHYRIA, HARDEROPORPHYRIA, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, ANEMIA, SIDEROBLASTIC, 1

CPOX, ALAS2, FECH, ALAD, UROS, COX10

REVESZ SYNDROME, FACTOR V DEFICIENCY, CAMURATI-ENGELMANN DISEASE, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, DIAMOND-BLACKFAN ANEMIA 5, BARTH SYNDROME, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, BONE MARROW FAILURE SYNDROME 1, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, COMBINED FACTOR V AND VIII DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, 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, HERMANSKY-PUDLAK SYNDROME 1, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, KENNY-CAFFEY SYNDROME, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ACUTE MYELOID LEUKEMIA, M6 TYPE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, GM1-GANGLIOSIDOSIS, TYPE II, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, DIAMOND-BLACKFAN ANEMIA 8, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEMOCHROMATOSIS, TYPE 2B, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ATRANSFERRINEMIA, DIAMOND-BLACKFAN ANEMIA 9, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?DIAMOND-BLACKFAN ANEMIA 11, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, DIAMOND-BLACKFAN ANEMIA 10, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, NIEMANN-PICK DISEASE, TYPE C2, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, HEMOPHILIA B, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, ?DIAMOND-BLACKFAN ANEMIA 12, HYPERPARATHYROIDISM, NEONATAL, IMMUNODEFICIENCY, COMMON VARIABLE, 13, IMMUNODEFICIENCY 23, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, COENZYME Q10 DEFICIENCY, PRIMARY, 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, 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, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, HETEROTOPIA, PERIVENTRICULAR, GLANZMANN THROMBASTHENIA, GM1-GANGLIOSIDOSIS, TYPE III, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, QUEBEC PLATELET DISORDER, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HERMANSKY-PUDLAK SYNDROME 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, DIAMOND-BLACKFAN ANEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, ADAMTS13, RPS26, APOB, MMP1, DNAJC19, F8, GP1BA, FAS, PIGT, CIITA, CYCS, BMPR1A, RPL5, SLC35A1, F2, AGT, PMM2, GGCX, IKZF1, TBCE, RPL15, LMAN1, ALG2, RPS19, GFI1B, CD40, RPS24, SRD5A3, KRAS, RUNX1, IL10, PLAU, LZTR1, PIGM, F9, MPI, NOS3, PARN, IKBKG, MTOR, MGAT2, ACTN1, RPS29, CBL, CCND1, JAK2, STAT1, SLC25A13, TUBB1, C3, RPS10, CASR, SMAD9, ALG6, RPS17, STAT3, BRAF, RPL26, F7, NUP214, MYD88, PIGA, CP, TF, GLB1, REN, RPS14, SMAD4, COL4A1, RPS28, VWF, CBS, SRP72, CD40LG, TAZ, F5, VHL, BCS1L, BRCA1, ITGB2, COQ2, SLC11A2, DTNBP1, PGM3, FECH, FANCA, HSPA9, RPS7, XRCC4, HAMP, NEU1, NPC2, DDOST, EPOR, VKORC1, SSR4, KNG1, FLNA, PRKCD, CD59, DPM1, RFT1, TGFB1, PTPN11, FTH1, MUC1, AP3B1, MT-CO2, RPL35A, SOS1, CFB, FGFR2, ACTN4, RPL11, B4GALT1, STX11, DPAGT1, SERPINE1, F10, FASLG, MPDU1, CALR, SERPINF2, ATR, ITGB3, TINF2, DHFR, ALG13, NPM1

VON WILLIBRAND DISEASE, TYPE 3, METHYLMALONIC ACIDURIA CBLB TYPE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, TRANSCOBALAMIN II DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, INTRINSIC FACTOR DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, VON WILLEBRAND DISEASE, TYPE 1, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

AMN, CBL, ABCD4, MTR, MMADHC, MUT, CUBN, MMAA, MMAB, GIF, LMBRD1, C10orf2, MTRR, TCN2, MMACHC, VWF

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, 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, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, PLEC, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, NME1, FAS, ACTN4, FGB, TGFB1, VWF, NOS3, CD40LG, F2, AGT, NPM1, HLA-DRB1, STAT3, TNFAIP3, FOXP3, ACTN1, ITGB2, SOS1, KRAS, FGA, CBL, PSMB8, BRAF, CCND1, IL10, IL2RA, JAK2, RPL5, PDGFRA, RUNX1, LAMTOR2, CALR, CYCS, CTLA4, ITGA2B, FGG, NF1, CD40, SPTB, PRKACG, PTPN11, KIT, SERPINE1, MTOR, SOS2

OVALOCYTOSIS, SA TYPE, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, SICKLE CELL ANEMIA, RENAL TUBULAR ACIDOSIS, DISTAL, AR, SPHEROCYTOSIS, TYPE 1, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, CRYOHYDROCYTOSIS, SPHEROCYTOSIS, TYPE 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

CA2, ANK1, HBB, RHAG, NOS3, SLC4A1, HBA1, PTPN11

BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, GLANZMANN THROMBASTHENIA, VON WILLEBRAND DISEASE, TYPE 1, NOONAN SYNDROME 4, VON WILLIBRAND DISEASE, TYPE 3, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGA, ITGA2B, F2, ITGB3, FGG, FGB, VWF, SOS1

MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 8, DIAMOND-BLACKFAN ANEMIA 3, DIAMOND-BLACKFAN ANEMIA 10, ?DIAMOND-BLACKFAN ANEMIA 12, DIAMOND-BLACKFAN ANEMIA 6, DIAMOND-BLACKFAN ANEMIA 1, DIAMOND-BLACKFAN ANEMIA 7, DIAMOND-BLACKFAN ANEMIA 5, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND-BLACKFAN ANEMIA 9

RPL5, RPS10, RPS26, RPS19, RPL11, RPS7, RPS14, RPL26, RPS17, RPS28, RPL15, RPS24, RPS29, RPL35A

BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, QUEBEC PLATELET DISORDER, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLANZMANN THROMBASTHENIA, ?BLEEDING DISORDER, PLATELET-TYPE, 18, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, VON WILLIBRAND DISEASE, TYPE 3, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGA, F2, ITGB3, FGG, RASGRP2, PLAU, FGB, ITGA2B, SOS1, VWF

MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 8, DIAMOND-BLACKFAN ANEMIA 3, DIAMOND-BLACKFAN ANEMIA 10, ?DIAMOND-BLACKFAN ANEMIA 12, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, DIAMOND-BLACKFAN ANEMIA 1, DIAMOND-BLACKFAN ANEMIA 7, DIAMOND-BLACKFAN ANEMIA 5, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND-BLACKFAN ANEMIA 9

RPL5, RPS10, RPS19, RPS26, RPS14, RPS7, RBM8A, RPL26, RPS17, RPS28, RPL15, RPS24, RPS29, RPL11, RPL35A

METHYLMALONIC ACIDURIA CBLB TYPE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, TRANSCOBALAMIN II DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, INTRINSIC FACTOR DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE

AMN, CBL, MTR, MMADHC, MUT, CUBN, MMAA, MMAB, GIF, LMBRD1, C10orf2, MTRR, TCN2, MMACHC

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, AICARDI-GOUTIERES SYNDROME 6, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, WISKOTT-ALDRICH SYNDROME, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, CBL, PLAU, ADAR, PLEC, FAS, ACTN4, FGB, CIITA, VWF, NOS3, CD40LG, CCND1, AGT, TGFB1, NPM1, HLA-DRB1, STAT3, TNFAIP3, FOXP3, ACTN1, ITGB2, SOS1, KRAS, FGA, FGFR2, PSMB8, PRKACG, THPO, IL10, WAS, JAK2, RPL5, PDGFRA, RUNX1, LAMTOR2, F2, CALR, CYCS, CTLA4, ITGA2B, FGG, NF1, SMAD4, CD40, BRAF, SPTB, IL2RA, PTPN11, KIT, SERPINE1, MTOR, SOS2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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, 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, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PLEC, FAS, ACTN4, FGB, TGFB1, VWF, NOS3, CD40LG, F2, AGT, NPM1, HLA-DRB1, STAT3, TNFAIP3, FOXP3, ACTN1, ITGB2, SOS1, KRAS, FGA, CBL, PSMB8, BRAF, CCND1, IL10, IL2RA, JAK2, RPL5, PDGFRA, RUNX1, LAMTOR2, PTPN11, CYCS, CTLA4, ITGA2B, FGG, NF1, CD40, SPTB, PRKACG, KIT, SERPINE1, MTOR, SOS2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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, 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, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PLEC, FAS, ACTN4, FGB, TGFB1, VWF, NOS3, CD40LG, F2, AGT, NPM1, HLA-DRB1, VHL, STAT3, TNFAIP3, FOXP3, ACTN1, ITGB2, SOS1, KRAS, FGA, CBL, PSMB8, BRAF, CCND1, IL10, IL2RA, JAK2, RPL5, PDGFRA, RUNX1, LAMTOR2, PTPN11, CYCS, CTLA4, ITGA2B, FGG, NF1, CD40, SPTB, PRKACG, KIT, SERPINE1, MTOR, SOS2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, CYCS, SOS1, KRAS, FGG, NF1, SPTB, BRAF, KIT, SERPINE1, SOS2

L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, NEPHRONOPHTHISIS 1, JUVENILE, ANEMIA, SIDEROBLASTIC, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, ?NEUTROPHILIA, HEREDITARY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, BONE MARROW FAILURE SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NIJMEGEN BREAKAGE SYNDROME, COMBINED FACTOR V AND VIII DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, GLANZMANN THROMBASTHENIA, BENT BONE DYSPLASIA SYNDROME, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HERMANSKY-PUDLAK SYNDROME 1, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, STORMORKEN SYNDROME, 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, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, ACUTE MYELOID LEUKEMIA, M6 TYPE, DIAMOND-BLACKFAN ANEMIA 9, 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}, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, INCONTINENTIA PIGMENTI, AICARDI-GOUTIERES SYNDROME 5, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, SPHEROCYTOSIS, TYPE 2, PYRUVATE KINASE DEFICIENCY, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, DIAMOND-BLACKFAN ANEMIA 6, ATRANSFERRINEMIA, NOONAN SYNDROME 9, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, [BOMBAY PHENOTYPE], IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IVIC SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HEREDITARY PYROPOIKILOCYTOSIS, EMBERGER SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ERYTHROCYTOSIS, FAMILIAL, 3, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, NIEMANN-PICK DISEASE, TYPE A, HETEROTOPIA, PERIVENTRICULAR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, 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, ELLIPTOCYTOSIS-2, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, FANCONI ANEMIA, COMPLEMENTATION GROUP L, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, VON WILLEBRAND DISEASE, TYPE 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, BLEEDING DISORDER, PLATELET-TYPE, 11, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MAY-HEGGLIN ANOMALY, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, FACTOR XIIIA DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HERMANSKY-PUDLAK SYNDROME 7, THROMBOCYTOPENIA 5, IMMUNODEFICIENCY 10, 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

F2, TREX1, APOB, PICALM, SPATA5, RAG1, FAS, PGK1, FUT2, CIITA, BMPR1A, RPL5, TUBB1, ALDOA, AGT, FLT3, SSR4, PIGT, ITGA2B, SPTA1, FGA, EGLN1, RPS14, CD244, SALL4, PRF1, MMP1, LMAN1, CYCS, NBN, TFRC, GFI1B, FGG, ADAR, NRAS, PRKACG, CD81, NF1, IFIH1, KRAS, RUNX1, CBL, PLAU, FCGR2B, LZTR1, CD40, NME1, HBA1, FGB, NOS3, THRA, CCND1, CAD, IKBKG, GATA2, HLA-DRB1, THPO, SCARB2, ACTN1, ITGA2, CD27, IL10, PSMB8, HLA-DQA1, CARD9, JAK2, MUC1, GP6, FTL, C3, SAMHD1, TMEM173, ALPL, RPS10, NLRC4, FANCA, LPP, SH2D1A, ITK, STX11, STAT3, SEC23B, CFB, MYD88, TNFSF11, GATA1, FCGR2A, LARS, STIM1, CALR, ITGB3, SMPD1, IL2RA, DDX41, SMAD4, VWF, CBS, SRP72, CD40LG, FLNA, CASR, NUP214, VHL, KIF1B, FOXP3, BRCA1, ITGB2, PLEC, ELANE, DTNBP1, CFI, FASLG, PSTPIP1, HSPA9, RAG2, F13A1, CFH, DDOST, KIT, OCLN, CSF3R, IRF5, SLC2A1, PRKCD, CD46, CD59, KNG1, CASP10, TGFB1, NPHP1, PTPN11, CXCR4, SOS2, TNFAIP3, MYH9, ERCC4, STAT1, WAS, F8, RASGRP2, PKLR, SOS1, FGFR2, ACTN4, BRAF, CD3G, NPM1, RPL11, PDGFRA, LAMTOR2, TF, CD36, CTLA4, CFHR3, ETV6, FANCL, HLA-DQB1, ANK1, AP3B1, EPOR, ATR, SPTB, BMPR2, SERPINE1, MTOR

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, CALR, SOS1, KRAS, FGG, NF1, SPTB, BRAF, PTPN11, KIT, SERPINE1, SOS2

MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 8, DIAMOND-BLACKFAN ANEMIA 3, DIAMOND-BLACKFAN ANEMIA 10, ?DIAMOND-BLACKFAN ANEMIA 12, CAMURATI-ENGELMANN DISEASE, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DIAMOND-BLACKFAN ANEMIA 6, DIAMOND-BLACKFAN ANEMIA 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 7, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 5, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND-BLACKFAN ANEMIA 9

RPL5, RPS10, RPS19, RPS26, NPM1, CALR, RPL11, RPS7, RPS14, RPL26, RPS17, RPS28, RPL15, RPS24, RPS29, TGFB1, NUP214, RPL35A

LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, INTRINSIC FACTOR DEFICIENCY, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE

GIF, AMN, CUBN, CBL, ABCD3

LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, INTRINSIC FACTOR DEFICIENCY, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE

GIF, AMN, CUBN, CBL, ABCD3

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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, 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, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, WISKOTT-ALDRICH SYNDROME, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, CBL, PLAU, SMAD4, PLEC, FAS, ACTN4, FGB, TGFB1, VWF, NOS3, CD40LG, ITGA2B, F2, AGT, NPM1, STAT1, STAT3, TNFAIP3, FOXP3, ACTN1, ITGB2, SOS1, KRAS, FGA, FGFR2, PSMB8, PRKACG, CCND1, IL10, WAS, JAK2, RPL5, PDGFRA, RUNX1, LAMTOR2, PTPN11, CYCS, CTLA4, HLA-DRB1, FGG, NF1, CD40, BRAF, SPTB, IL2RA, KIT, SERPINE1, MTOR, SOS2

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, CAMURATI-ENGELMANN DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, GALACTOSEMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ

SRD5A3, B4GALT1, DPAGT1, MPDU1, ALG13, PMM2, NEU1, RFT1, DPM1, MGAT2, PIGA, MPI, ALG6, ALG2, TGFB1, GALT, NOS3

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, CALR, SOS1, KRAS, FGG, NF1, SPTB, BRAF, PTPN11, KIT, SERPINE1, SOS2

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ

B4GALT1, MPDU1, ALG6, MGAT2, DPAGT1, ALG2, ALG13, RFT1

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, SOS1, KRAS, FGG, NF1, SPTB, BRAF, KIT, SERPINE1, SOS2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, VHL, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, CALR, SOS1, KRAS, FGG, NF1, SPTB, BRAF, PTPN11, KIT, SERPINE1, SOS2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, SOS1, KRAS, FGG, NF1, SPTB, BRAF, KIT, SERPINE1, SOS2

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, INCONTINENTIA PIGMENTI, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYCYTHEMIA VERA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

GATA1, HLA-DRB1, RPL5, ACTN4, CALR, CBL, IKBKG, JAK2, PRKCD, STAT1, HLA-DQB1, STX11, IRF5, HLA-DQA1, CIITA, PTPN11

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, SOS1, KRAS, FGG, NF1, SPTB, BRAF, KIT, SERPINE1, SOS2

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, INCONTINENTIA PIGMENTI, THROMBOCYTHEMIA 3, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, ERYTHROCYTOSIS, FAMILIAL, 2, WHIM SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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, DIAMOND-BLACKFAN ANEMIA 6, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AICARDI-GOUTIERES SYNDROME 5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AICARDI-GOUTIERES SYNDROME 6, RHEUMATOID ARTHRITIS, HERMANSKY-PUDLAK SYNDROME 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HERMANSKY-PUDLAK SYNDROME 7, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}

GATA1, PRKCD, IL10, ADAR, IRF5, FAS, ACTN4, TGFB1, PTPN11, CXCR4, RPL5, CCND1, CIITA, NUP214, STAT1, VHL, CBL, PSMB8, DTNBP1, JAK2, HLA-DRB1, IKBKG, STX11, CALR, SAMHD1, HLA-DQB1, CD40, STAT3, HLA-DQA1, MYD88

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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, 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, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PLEC, FAS, ACTN4, FGB, TGFB1, VWF, NOS3, CD40LG, F2, AGT, NPM1, HLA-DRB1, STAT3, TNFAIP3, FOXP3, ACTN1, ITGB2, SOS1, KRAS, FGA, CBL, PSMB8, BRAF, CCND1, IL10, IL2RA, JAK2, RPL5, PDGFRA, RUNX1, LAMTOR2, PTPN11, CYCS, CTLA4, ITGA2B, FGG, NF1, CD40, SPTB, PRKACG, KIT, SERPINE1, MTOR, SOS2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, SOS1, KRAS, FGG, NF1, SPTB, BRAF, KIT, SERPINE1, SOS2

HEREDITARY PYROPOIKILOCYTOSIS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, QUEBEC PLATELET DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, INCONTINENTIA PIGMENTI, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, BLEEDING DISORDER, PLATELET-TYPE, 11, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IVIC SYNDROME, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PLATELET GLYCOPROTEIN IV DEFICIENCY, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, LEUKOCYTE ADHESION DEFICIENCY, WISKOTT-ALDRICH SYNDROME, CAMURATI-ENGELMANN DISEASE, ?BLEEDING DISORDER, PLATELET-TYPE, 18, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, THROMBOCYTOPENIA 5, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ACUTE MYELOID LEUKEMIA, M6 TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, THROMBOCYTHEMIA 3, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, PLEC, ITGB3, RASGRP2, PRKCD, CBL, PLAU, VWF, SMAD4, NME1, FAS, ACTN4, FGB, TGFB1, CYCS, NOS3, CXCR4, CD40LG, ITGA2B, F2, AGT, IKBKG, MTOR, STAT1, STAT3, TNFAIP3, SCARB2, BMPR1A, FLNA, ITGB2, SOS1, SPTA1, FGA, FGFR2, PSMB8, BRAF, CCND1, IL10, WAS, JAK2, SALL4, RPL5, PDGFRA, RUNX1, EPOR, LAMTOR2, GP6, CD36, ACTN1, CTLA4, HLA-DRB1, ETV6, KRAS, FGG, NF1, ITK, CD40, SPTB, DDOST, IL2RA, PTPN11, KIT, SERPINE1, NPM1, SOS2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PLEC, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, MTOR, STAT3, ACTN1, ITGA2B, KRAS, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, SOS1, FGG, NF1, SPTB, BRAF, KIT, SERPINE1, SOS2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, FECHTNER SYNDROME, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, SEBASTIAN SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, ANEMIA, SIDEROBLASTIC, 1, MAY-HEGGLIN ANOMALY

CPOX, MYH9, ALAS2, FECH, ALAD, UROS, COX10

HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, METHYLMALONIC ACIDURIA CBLB TYPE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, TRANSCOBALAMIN II DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, INTRINSIC FACTOR DEFICIENCY, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE

AMN, CBL, MMADHC, HLCS, MUT, CUBN, PCCB, MTRR, MMAA, GIF, MMAB, LMBRD1, C10orf2, MTR, PCCA, MMACHC, TCN2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, CALR, SOS1, KRAS, FGG, NF1, SPTB, BRAF, PTPN11, KIT, SERPINE1, SOS2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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, 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, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PLEC, FAS, ACTN4, FGB, TGFB1, VWF, NOS3, CD40LG, F2, AGT, NPM1, HLA-DRB1, STAT3, TNFAIP3, FOXP3, ACTN1, ITGB2, SOS1, KRAS, FGA, CBL, PSMB8, BRAF, CCND1, IL10, IL2RA, JAK2, RPL5, PDGFRA, RUNX1, LAMTOR2, PTPN11, CYCS, CTLA4, ITGA2B, FANCA, FGG, NF1, CD40, SPTB, PRKACG, KIT, SERPINE1, MTOR, SOS2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, SOS1, KRAS, FGG, NF1, SPTB, BRAF, KIT, SERPINE1, SOS2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, SOS1, KRAS, FGG, NF1, SPTB, BRAF, KIT, SERPINE1, SOS2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, LATHOSTEROLOSIS, {THIOPURINES, POOR METABOLISM OF, 1}, GM1-GANGLIOSIDOSIS, TYPE II, VON WILLIBRAND DISEASE, TYPE 3, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, TRANSCOBALAMIN II DEFICIENCY, ?THROMBOXANE SYNTHASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DIAMOND-BLACKFAN ANEMIA 6, METHYLMALONIC ACIDURIA CBLB TYPE, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, GHOSAL HEMATODIAPHYSEAL SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE III, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, HYPERPARATHYROIDISM, NEONATAL, INTRINSIC FACTOR DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, GLUTATHIONE SYNTHETASE DEFICIENCY, TRIMETHYLAMINURIA, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, DIAMOND-BLACKFAN ANEMIA 9, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

AMN, GLB1, GIF, CYP7B1, TPMT, MTRR, SMAD4, ABCD3, VWF, RPL5, HLCS, CASR, GSS, MT-CO2, PCCA, CBL, C10orf2, MMADHC, MUT, SC5D, MMAB, NEU1, TCN2, MMACHC, TBXAS1, RPS10, MTR, MMAA, FMO3, GCLC, LMBRD1, CUBN, PCCB

FACTOR XIIIA DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, FACTOR XIIIB DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FACTOR V DEFICIENCY, FACTOR X DEFICIENCY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL

FGA, F2, FGG, F13B, F13A1, F8, THBD, F5, FGB, F10

FACTOR XIIIA DEFICIENCY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, FACTOR XIIIB DEFICIENCY, HEMOPHILIA B, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FACTOR V DEFICIENCY, FACTOR X DEFICIENCY, FACTOR XII DEFICIENCY, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEREDITARY FACTOR VIII DEFICIENCY DISEASE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, FACTOR VII DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, VON WILLEBRAND DISEASE, TYPE 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT)

FGA, GP1BB, FGB, F5, F2, FGG, F13A1, F13B, GP9, F8, SERPINE1, THBD, GP1BA, F10, F7, FLNA, VWF, KNG1, F12, F9

MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 8, DIAMOND-BLACKFAN ANEMIA 3, DIAMOND-BLACKFAN ANEMIA 10, ?DIAMOND-BLACKFAN ANEMIA 12, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, DIAMOND-BLACKFAN ANEMIA 1, DIAMOND-BLACKFAN ANEMIA 7, DIAMOND-BLACKFAN ANEMIA 5, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND-BLACKFAN ANEMIA 9

RPL5, RPS10, RPS19, RPS26, RPS14, RPS7, RBM8A, RPL26, RPS17, RPS28, RPL15, RPS24, RPS29, RPL11, RPL35A

WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HEMOPHILIA B, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FACTOR V DEFICIENCY, FACTOR X DEFICIENCY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, FACTOR VII DEFICIENCY

F9, F2, F5, F8, F7, F10

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PLEC, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, MTOR, STAT3, ACTN1, ITGA2B, KRAS, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, SOS1, FGG, NF1, SPTB, BRAF, KIT, SERPINE1, SOS2

BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, 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, GLANZMANN THROMBASTHENIA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLIBRAND DISEASE, TYPE 3, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGA, NRAS, KRAS, ITGB3, F2, FGG, FGB, AGT, LAMTOR2, BRAF, SOS1, ITGA2B, VWF

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, QUEBEC PLATELET DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 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, ?GLYCOPROTEIN IA 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, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, GLANZMANN THROMBASTHENIA, ATRANSFERRINEMIA, 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, TYPE III, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, LEUKOCYTE ADHESION DEFICIENCY, CAMURATI-ENGELMANN DISEASE, PORENCEPHALY 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, THROMBOCYTOPENIA 5, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CALR, ITGB3, PLEC, PRKCD, PLAU, VWF, SMAD4, KNG1, FGB, TGFB1, ETV6, NOS3, CXCR4, CD40LG, F2, AGT, CIITA, VHL, COL4A1, ACTN1, ITGA2, ITGB2, ITGA2B, APOB, ELANE, FGA, BMPR1A, FGFR2, CCND1, RUNX1, JAK2, MMP1, TF, PTPN11, F10, FASLG, GFI1B, FGG, SERPINF2, CD40, STAT3, BMPR2, BRAF, FLNA, SERPINE1, COL7A1

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, 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, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BENT BONE DYSPLASIA SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HERMANSKY-PUDLAK SYNDROME 1, SPHEROCYTOSIS, TYPE 1, CAMURATI-ENGELMANN DISEASE, MEDULLARY CYSTIC KIDNEY DISEASE 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, ACUTE MYELOID LEUKEMIA, M6 TYPE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, DIAMOND-BLACKFAN ANEMIA 6, ATRANSFERRINEMIA, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, WHIM SYNDROME, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ELLIPTOCYTOSIS-2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLANZMANN THROMBASTHENIA, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, LYMPHOPROLIFERATIVE SYNDROME 2, QUEBEC PLATELET DISORDER, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, HETEROTOPIA, PERIVENTRICULAR, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HERMANSKY-PUDLAK SYNDROME 7, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

GATA1, FASLG, NRAS, RPL5, TF, TNFSF11, SPTA1, PRKCD, FGFR2, MMP1, LAMTOR2, SMAD4, IKBKG, PRF1, NME1, FAS, PSMB8, FGB, IRF5, CIITA, VWF, BMPR1A, CXCR4, CD40LG, MUC1, KRAS, ITGB3, AGT, TGFB1, MTOR, HLA-DRB1, VHL, STAT3, TNFAIP3, NOS3, FLNA, ITGB2, SOS1, PLEC, CD27, FGA, BMPR2, CBL, ACTN4, BRAF, CCND1, THRA, IL10, WAS, JAK2, NPM1, STAT1, PDGFRA, RUNX1, EPOR, STX11, ITGA2B, PLAU, CALR, HLA-DQA1, F2, ACTN1, CTLA4, PTPN11, SAMHD1, HLA-DQB1, ANK1, FANCA, HSPA9, FGG, NF1, ITK, ADAR, CD40, SPTB, DTNBP1, SOS2, IL2RA, KIT, SERPINE1, NUP214, MYD88

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTHEMIA 3, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, INCONTINENTIA PIGMENTI, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, WHIM SYNDROME, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, CYANOSIS, TRANSIENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, FECHTNER SYNDROME, CAMURATI-ENGELMANN DISEASE, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SEBASTIAN SYNDROME, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HETEROTOPIA, PERIVENTRICULAR, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NOONAN SYNDROME 4

GATA1, BRCA2, FLNA, HBB, SMAD4, IRF5, SH2B3, HBA1, IKBKG, CXCR4, STAT1, TUBB1, CCND1, MYH9, CIITA, GATA2, VHL, HBG2, SOS1, CBL, KLF1, JAK2, CBS, TGFB1, VPS45, STAT3, PRKACG, MYD88

THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, VON WILLEBRAND DISEASE, TYPE 1, FOLATE MALABSORPTION, HEREDITARY, VON WILLIBRAND DISEASE, TYPE 3, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, METHEMOGLOBINEMIA, TYPE IV, TRANSCOBALAMIN II DEFICIENCY, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA CBLB TYPE, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, INTRINSIC FACTOR DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PROPIONICACIDEMIA, HARP SYNDROME, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, SMITH-KINGSMORE SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

AMN, SLC2A1, GIF, MMAB, SLC46A1, MTRR, VWF, CBS, ACP5, HLCS, MTR, PCCB, CYB5A, MMACHC, CBL, C10orf2, MMADHC, MUT, ALPL, TCN2, PCCA, PNPO, MMAA, ABCD4, SLC19A2, CUBN, CYB5R3, ABCD3, PANK2, LMBRD1, DHFR, MTOR

REVESZ SYNDROME, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CAMURATI-ENGELMANN DISEASE, TRIMETHYLAMINURIA, ANEMIA, SIDEROBLASTIC, 4, {THIOPURINES, POOR METABOLISM OF, 1}, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, DIAMOND-BLACKFAN ANEMIA 5, DIAMOND-BLACKFAN ANEMIA 13, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, INTERSTITIAL LUNG AND LIVER DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, TRANSCOBALAMIN II DEFICIENCY, GLANZMANN THROMBASTHENIA, BENT BONE DYSPLASIA SYNDROME, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, 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, SICKLE CELL ANEMIA, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ACUTE MYELOID LEUKEMIA, M6 TYPE, DIAMOND-BLACKFAN ANEMIA 9, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, GM1-GANGLIOSIDOSIS, TYPE II, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, DIAMOND-BLACKFAN ANEMIA 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?THROMBOXANE SYNTHASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, ATRANSFERRINEMIA, NOONAN SYNDROME 9, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, ?DIAMOND-BLACKFAN ANEMIA 11, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, DIAMOND-BLACKFAN ANEMIA 10, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, GHOSAL HEMATODIAPHYSEAL SYNDROME, WHIM SYNDROME, 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, 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, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, INTRINSIC FACTOR DEFICIENCY, LATHOSTEROLOSIS, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, 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, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, GALACTOSEMIA, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, HETEROTOPIA, PERIVENTRICULAR, MAY-HEGGLIN ANOMALY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, LEUKEMIA, CHRONIC MYELOID, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE III, THROMBOCYTOPENIA 4, ?DIAMOND-BLACKFAN ANEMIA 12, HYPOBETALIPOPROTEINEMIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, METHYLMALONIC ACIDURIA, MUT(0) TYPE, IMMUNODEFICIENCY 46, SEA-BLUE HISTIOCYTE DISEASE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, GLUTATHIONE SYNTHETASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, HLCS, HBB, APOB, FMO3, SRD5A3, FAS, PGK1, SC5D, IKBKG, CYCS, ACTN1, RPL5, FTL, RPS26, AGT, PCCB, MGAT2, FGA, F2, RPL15, NEU1, ALG2, SOS1, TFRC, RPS19, GFI1B, CD40, ABCB6, RPS24, CD81, MMAA, AMN, KRAS, IL10, CIITA, LZTR1, GCLC, IRF5, MPI, NOS3, THRA, CCND1, SMAD9, MTOR, SCARB2, RPS29, GALT, CALR, CBL, PSMB8, KCNJ1, JAK2, STAT1, VPS33B, RPS17, TCIRG1, C3, RPS10, FANCA, ALG6, ITK, STAT3, RPL26, CUBN, GSS, MYD88, GATA1, PIGA, PFKM, GLB1, RPS14, MMAB, SMAD4, RPS28, VWF, CBS, CD36, CD40LG, CASR, NUP214, VHL, FOXP3, ITGB2, MMACHC, TPI1, MUT, PHGDH, PLAU, MPDU1, HSPA9, HK1, RPS7, XRCC4, ABCD3, ACVRL1, DDOST, ELANE, LMBRD1, KIT, BCR, OCLN, NRAS, KNG1, FLNA, GIF, PRKCD, TPMT, PMM2, DPM1, RFT1, CLDN1, RPL35A, CXCR4, B4GALT1, MTR, TGFB1, WAS, MT-CO2, PTPN11, PCCA, FGFR2, ACTN4, TINF2, MMADHC, MARS, RPL11, PDGFRA, DPAGT1, TCN2, CTLA4, SERPINE1, TBXAS1, FASLG, MYH9, SARS2, TF, EPOR, CYP7B1, ATR, FCGR2A, ITGB3, SOS2, C10orf2, MTRR, ALG13, NPM1

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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, 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, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PLEC, FAS, ACTN4, FGB, TGFB1, VWF, NOS3, CD40LG, F2, AGT, NPM1, HLA-DRB1, STAT3, TNFAIP3, FOXP3, ACTN1, ITGB2, SOS1, KRAS, FGA, CBL, PSMB8, BRAF, CCND1, IL10, IL2RA, JAK2, RPL5, PDGFRA, RUNX1, LAMTOR2, PTPN11, CYCS, CTLA4, ITGA2B, FGG, NF1, CD40, SPTB, PRKACG, KIT, SERPINE1, MTOR, SOS2

ATRANSFERRINEMIA, FOLATE MALABSORPTION, HEREDITARY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HEMOCHROMATOSIS, TYPE 2B, HEMOCHROMATOSIS, TYPE 4, ?HEMOCHROMATOSIS, TYPE 5, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], IMMUNODEFICIENCY 46, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1

FTH1, FTL, SLC11A2, TF, SLC40A1, CP, TFRC, HAMP, SLC46A1, TCIRG1, STEAP3, CALR

?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GM1-GANGLIOSIDOSIS, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, COMBINED FACTOR V AND VIII DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, DIAMOND-BLACKFAN ANEMIA 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, GM1-GANGLIOSIDOSIS, TYPE III, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, CAMURATI-ENGELMANN DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MEDULLARY CYSTIC KIDNEY DISEASE 1, IMMUNODEFICIENCY 23, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ

CALR, GLB1, SMAD4, PIGA, MPI, RFT1, TGFB1, NOS3, RPL5, SLC35A1, PMM2, MGAT2, DPM1, SRD5A3, NEU1, MUC1, PGM3, B4GALT1, LMAN1, ALG2, FASLG, DPAGT1, MPDU1, ALG6, DDOST, ALG13

RHEUMATOID ARTHRITIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INCONTINENTIA PIGMENTI, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {CELIAC DISEASE, SUSCEPTIBILITY TO}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

HLA-DRB1, CD3G, HLA-DQB1, HLA-DQA1, IKBKG, PTPN11

{SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT

CD3G, HLA-DRB1, HLA-DQB1, HLA-DQA1

THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, VON WILLEBRAND DISEASE, TYPE 1, FOLATE MALABSORPTION, HEREDITARY, VON WILLIBRAND DISEASE, TYPE 3, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, METHEMOGLOBINEMIA, TYPE IV, TRANSCOBALAMIN II DEFICIENCY, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA CBLB TYPE, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, INTRINSIC FACTOR DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PROPIONICACIDEMIA, HARP SYNDROME, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, SMITH-KINGSMORE SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

AMN, SLC2A1, GIF, MMAB, SLC46A1, MTRR, VWF, CBS, ACP5, HLCS, MTR, PCCB, CYB5A, MMACHC, CBL, C10orf2, MMADHC, MUT, ALPL, TCN2, PCCA, PNPO, MMAA, ABCD4, SLC19A2, CUBN, CYB5R3, ABCD3, PANK2, LMBRD1, DHFR, MTOR

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, FLNA, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, CALR, SOS1, KRAS, FGG, NF1, SPTB, BRAF, PTPN11, KIT, SERPINE1, SOS2

MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 8, DIAMOND-BLACKFAN ANEMIA 3, DIAMOND-BLACKFAN ANEMIA 10, ?DIAMOND-BLACKFAN ANEMIA 12, DIAMOND-BLACKFAN ANEMIA 6, DIAMOND-BLACKFAN ANEMIA 1, DIAMOND-BLACKFAN ANEMIA 7, DIAMOND-BLACKFAN ANEMIA 5, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND-BLACKFAN ANEMIA 9

RPL5, RPS10, RPS26, RPS19, RPL11, RPS7, RPS14, RPL26, RPS17, RPS28, RPL15, RPS24, RPS29, RPL35A

LEUKOCYTE ADHESION DEFICIENCY, ?GLYCOPROTEIN IA DEFICIENCY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, HETEROTOPIA, PERIVENTRICULAR, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, BLEEDING DISORDER, PLATELET-TYPE, 11, VON WILLEBRAND DISEASE, TYPE 1, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), VON WILLIBRAND DISEASE, TYPE 3, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

GP1BB, ITGA2, FLNA, GP9, GP6, GP1BA, ITGB2, VWF

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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, 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, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PLEC, FAS, ACTN4, FGB, TGFB1, VWF, NOS3, CD40LG, F2, AGT, NPM1, HLA-DRB1, STAT3, TNFAIP3, FOXP3, ACTN1, ITGB2, SOS1, KRAS, FGA, CBL, PSMB8, BRAF, CCND1, IL10, IL2RA, JAK2, RPL5, PDGFRA, RUNX1, LAMTOR2, PTPN11, CYCS, CTLA4, ITGA2B, FGG, NF1, CD40, SPTB, PRKACG, KIT, SERPINE1, MTOR, SOS2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, SOS1, KRAS, FGG, NF1, SPTB, BRAF, KIT, SERPINE1, SOS2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, SOS1, KRAS, FGG, NF1, SPTB, BRAF, KIT, SERPINE1, SOS2

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, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, THROMBOCYTHEMIA 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

CBL, JAK2, STAT1, STAT3, PTPN11

PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FACTOR X DEFICIENCY, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, QUEBEC PLATELET DISORDER, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY

FGA, F2, HRG, PLAU, SERPINE1, SERPINF2, F10

GM1-GANGLIOSIDOSIS, TYPE III, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, GM1-GANGLIOSIDOSIS, TYPE II, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, IMMUNODEFICIENCY 23, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ

FASLG, SLC35A1, PIGA, GLB1, ALG13, ALG6, NEU1, PGM3, DPM1, MPI, DPAGT1, RFT1, MPDU1, ALG2, SRD5A3, PMM2, NOS3

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, SOS1, KRAS, FGG, NF1, SPTB, BRAF, KIT, SERPINE1, SOS2

MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 8, DIAMOND-BLACKFAN ANEMIA 3, DIAMOND-BLACKFAN ANEMIA 10, ?DIAMOND-BLACKFAN ANEMIA 12, DIAMOND-BLACKFAN ANEMIA 6, DIAMOND-BLACKFAN ANEMIA 1, DIAMOND-BLACKFAN ANEMIA 7, DIAMOND-BLACKFAN ANEMIA 5, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND-BLACKFAN ANEMIA 9

RPL5, RPS10, RPS26, RPS19, RPL11, RPS7, RPS14, RPL26, RPS17, RPS28, RPL15, RPS24, RPS29, RPL35A

MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 8, DIAMOND-BLACKFAN ANEMIA 3, DIAMOND-BLACKFAN ANEMIA 10, ?DIAMOND-BLACKFAN ANEMIA 12, DIAMOND-BLACKFAN ANEMIA 6, DIAMOND-BLACKFAN ANEMIA 1, DIAMOND-BLACKFAN ANEMIA 7, DIAMOND-BLACKFAN ANEMIA 5, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND-BLACKFAN ANEMIA 9

RPL5, RPS10, RPS26, RPS19, RPL11, RPS7, RPS14, RPL26, RPS17, RPS28, RPL15, RPS24, RPS29, RPL35A

WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HEMOPHILIA B, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FACTOR V DEFICIENCY, FACTOR X DEFICIENCY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, FACTOR VII DEFICIENCY

F9, F2, F5, F8, F7, F10

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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, 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, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PLEC, FAS, ACTN4, FGB, TGFB1, VWF, NOS3, CD40LG, F2, AGT, NPM1, HLA-DRB1, STAT3, TNFAIP3, FOXP3, ACTN1, ITGB2, SOS1, KRAS, FGA, CBL, PSMB8, BRAF, CCND1, IL10, IL2RA, JAK2, RPL5, PDGFRA, RUNX1, LAMTOR2, PTPN11, CYCS, CTLA4, ITGA2B, FANCA, FGG, NF1, CD40, SPTB, PRKACG, KIT, SERPINE1, MTOR, SOS2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, QUEBEC PLATELET DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, 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}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, SPHEROCYTOSIS, TYPE 2, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, LEUKOCYTE ADHESION DEFICIENCY, WISKOTT-ALDRICH SYNDROME, CAMURATI-ENGELMANN DISEASE, PORENCEPHALY 1, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PLEC, FAS, ACTN4, FGB, TGFB1, VWF, NOS3, CXCR4, RPL5, ITGA2B, F2, AGT, NPM1, STAT1, VHL, STAT3, COL4A1, TNFAIP3, FOXP3, ACTN1, ITGA2, ITGB2, SOS1, HRG, KRAS, FGA, CBL, PSMB8, PRKACG, CCND1, IL10, WAS, JAK2, CD40LG, PDGFRA, RUNX1, LAMTOR2, CALR, CYCS, CTLA4, HLA-DRB1, FGG, NF1, CD40, BRAF, SPTB, SOS2, IL2RA, PTPN11, KIT, SERPINE1, MTOR, COL7A1

OVALOCYTOSIS, SA TYPE, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, SICKLE CELL ANEMIA, RENAL TUBULAR ACIDOSIS, DISTAL, AR, SPHEROCYTOSIS, TYPE 1, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, CRYOHYDROCYTOSIS, SPHEROCYTOSIS, TYPE 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

CA2, ANK1, HBB, RHAG, NOS3, SLC4A1, HBA1, PTPN11

THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RHEUMATOID ARTHRITIS, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {CELIAC DISEASE, SUSCEPTIBILITY TO}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

HLA-DQB1, CD3G, CBL, ITK, HLA-DRB1, WAS, HLA-DQA1

{SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT

CD3G, HLA-DRB1, HLA-DQB1, HLA-DQA1

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, INCONTINENTIA PIGMENTI, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, SPHEROCYTOSIS, TYPE 1, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, MEDULLARY CYSTIC KIDNEY DISEASE 1, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ACUTE MYELOID LEUKEMIA, M6 TYPE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, NME1, PSMB8, FGB, TGFB1, VWF, NOS3, STAT1, F2, AGT, MYD88, MTOR, HLA-DRB1, STAT3, TNFAIP3, BMPR1A, FLNA, ITGB2, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, MUC1, PDGFRA, RUNX1, IKBKG, LAMTOR2, PTPN11, ACTN1, SOS1, ANK1, KRAS, FGG, NF1, CD40, SPTB, BRAF, KIT, SERPINE1, EPOR, SOS2

OVALOCYTOSIS, SA TYPE, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, SICKLE CELL ANEMIA, RENAL TUBULAR ACIDOSIS, DISTAL, AR, SPHEROCYTOSIS, TYPE 1, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, CRYOHYDROCYTOSIS, SPHEROCYTOSIS, TYPE 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

CA2, ANK1, HBB, RHAG, NOS3, SLC4A1, HBA1, PTPN11

MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ?DIAMOND-BLACKFAN ANEMIA 11, BONE MARROW FAILURE SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 8, DIAMOND-BLACKFAN ANEMIA 3, DIAMOND-BLACKFAN ANEMIA 10, ?DIAMOND-BLACKFAN ANEMIA 12, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DIAMOND-BLACKFAN ANEMIA 6, DIAMOND-BLACKFAN ANEMIA 1, DIAMOND-BLACKFAN ANEMIA 7, DIAMOND-BLACKFAN ANEMIA 5, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND-BLACKFAN ANEMIA 9

RPL5, RPS10, RPS26, RPS19, RPL11, RPS7, RPS14, SSR4, RPL26, RPS17, RPS28, RPL15, RPS24, RPS29, DDOST, SRP72, RPL35A

WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HEMOPHILIA B, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, FACTOR V DEFICIENCY, FACTOR X DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, FACTOR VII DEFICIENCY, ANEMIA, SIDEROBLASTIC, 4, COMBINED FACTOR V AND VIII DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 1, VON WILLEBRAND DISEASE, TYPE 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, VON WILLIBRAND DISEASE, TYPE 3, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

GGCX, F2, HSPA9, RPS19, F5, LMAN1, F8, STAT3, VKORC1, F7, F10, VWF, F9

{HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, POLYCYTHEMIA VERA, SOMATIC, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, BLEEDING DISORDER, PLATELET-TYPE, 11, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, LEUKOCYTE ADHESION DEFICIENCY, VON WILLIBRAND DISEASE, TYPE 3, LYSINURIC PROTEIN INTOLERANCE, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA 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, GLANZMANN THROMBASTHENIA, ATRANSFERRINEMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPOBETALIPOPROTEINEMIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, LYMPHOPROLIFERATIVE SYNDROME 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, WHIM SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SEA-BLUE HISTIOCYTE DISEASE, HETEROTOPIA, PERIVENTRICULAR, FACTOR V DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, THROMBOCYTHEMIA 3, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, CD244, GP6, F2, KRAS, NRAS, MMP1, F5, VWF, TGFB1, FLNA, PTPN11, CXCR4, ITGB3, ITGA2, ITGB2, ITGA2B, APOB, IL10, JAK2, TF, SOS1, SLC7A7, ITK, CD40, THBD, SH2D1A

WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HEMOPHILIA B, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, FACTOR V DEFICIENCY, FACTOR X DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, FACTOR VII DEFICIENCY

F9, F2, F8, F10, F5, F7, GGCX, VKORC1

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, HETEROTOPIA, PERIVENTRICULAR, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, VON WILLEBRAND DISEASE, TYPE 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT)

GP1BB, VWF, GP9, GP1BA, FLNA

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, SOS1, KRAS, FGG, NF1, SPTB, BRAF, KIT, SERPINE1, SOS2

REVESZ SYNDROME, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, RETICULAR DYSGENESIS, FACTOR V DEFICIENCY, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ANEMIA, SIDEROBLASTIC, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, BARTTER SYNDROME, TYPE 2, BENT BONE DYSPLASIA SYNDROME, {THIOPURINES, POOR METABOLISM OF, 1}, SPHEROCYTOSIS, TYPE 4, BARTH SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, ?DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS, ?INFANTILE LIVER FAILURE SYNDROME 1, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, INTERSTITIAL LUNG AND LIVER DISEASE, [AMP DEAMINASE DEFICIENCY, ERYTHROCYTIC], WOLFRAM SYNDROME 2, TRANSALDOLASE DEFICIENCY, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, DYSKERATOSIS CONGENITA, X-LINKED, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, SICKLE CELL ANEMIA, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, ATRANSFERRINEMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, 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, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, GAUCHER DISEASE, TYPE IIIC, {THIOPURINES, POOR METABOLISM OF, 2}, DIAMOND-BLACKFAN ANEMIA 9, OROTIC ACIDURIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, SITOSTEROLEMIA, GLANZMANN THROMBASTHENIA, NORUM DISEASE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, GM1-GANGLIOSIDOSIS, TYPE II, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, GREENBERG SKELETAL DYSPLASIA, FAVISM, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, DIAMOND-BLACKFAN ANEMIA 8, GALACTOSEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?THROMBOXANE SYNTHASE DEFICIENCY, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, TRANSCOBALAMIN II DEFICIENCY, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, GHOSAL HEMATODIAPHYSEAL SYNDROME, NOONAN SYNDROME 9, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, YUNIS-VARON SYNDROME, PRIMARY PULMONARY HYPERTENSION, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, RHEUMATOID ARTHRITIS, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, FACTOR X DEFICIENCY, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, GAUCHER DISEASE, TYPE I, 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}, NEPHRONOPHTHISIS 1, JUVENILE, EMBERGER SYNDROME, GM1-GANGLIOSIDOSIS, TYPE III, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, PELGER-HUET ANOMALY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, OVALOCYTOSIS, SA TYPE, BLEEDING DISORDER, PLATELET-TYPE, 15, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], HEREDITARY FACTOR VIII DEFICIENCY DISEASE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, SENIOR-LOKEN SYNDROME-1, PROPIONICACIDEMIA, WHIM SYNDROME, HYPER-IGD SYNDROME, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, CHANARIN-DORFMAN SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, GAUCHER DISEASE, TYPE III, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, RENAL TUBULAR ACIDOSIS, DISTAL, AR, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, INTRINSIC FACTOR DEFICIENCY, GLYCOGEN STORAGE DISEASE IC, LATHOSTEROLOSIS, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, TRIMETHYLAMINURIA, COENZYME Q10 DEFICIENCY, PRIMARY, 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, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, COPROPORPHYRIA, HARDEROPORPHYRIA, ABETALIPOPROTEINEMIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, SENGERS SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, BLEEDING DISORDER, PLATELET-TYPE, 11, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, FOLATE MALABSORPTION, HEREDITARY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MAY-HEGGLIN ANOMALY, LESCH-NYHAN SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, CRYOHYDROCYTOSIS, ANEMIA, SIDEROBLASTIC, 1, FACTOR XIIIA DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHEMOGLOBINEMIA, TYPE IV, METHYLMALONIC ACIDURIA, MUT(0) TYPE, IMMUNODEFICIENCY 46, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ACUTE MYELOID LEUKEMIA, M6 TYPE, CHEDIAK-HIGASHI SYNDROME, ISOVALERIC ACIDEMIA, GLUTATHIONE SYNTHETASE DEFICIENCY, GAUCHER DISEASE, TYPE II, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, FANCONI ANEMIA, COMPLEMENTATION GROUP C, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NF1, KCNA5, APOE, FANCM, HLCS, HBB, AMACR, APOB, CP, MMP1, FMO3, F8, F5, LBR, PGK1, SC5D, IKBKG, RPS7, TBXA2R, DGUOK, RPL5, ALDOA, F2, AGT, GSS, G6PD, AK2, CASR, CA2, AKR1D1, SMPD1, G6PC3, SOS1, FGA, BAAT, CYB5A, STK11, COX6B1, TERT, FH, FTCD, AGK, G6PC, COX20, GALT, PNPO, TFRC, PICALM, CYCS, GFI1B, CYB5R3, CYP7B1, ABCB6, UMPS, PRKACG, ABHD5, COX8A, FIG4, AMN, SRD5A3, KRAS, CBL, CIITA, PUS1, MTTP, NME1, HBA1, NOS3, THRA, CCND1, CAD, MYD88, RYR1, GPI, ACTN1, ITGA2, CPOX, ALAD, ABCB7, CALR, MVK, IL10, PSMB8, KCNJ1, JAK2, MUC1, RHAG, SLC25A13, FANCC, PFKM, AK1, SLC4A1, TF, FCGR2B, RTEL1, ALPL, ABCD4, SLC19A2, SMAD9, ALAS2, TALDO1, COX14, PANK2, STAT3, PKLR, BRAF, SPATA5, ACD, CUBN, PCCB, BMPR2, TCN2, DHFR, LARS, GP6, GLB1, DKC1, SLC35A2, MMAB, SMAD4, CYP2C9, VWF, CBS, SLC25A15, HPRT1, CD40LG, TNFSF11, TAZ, NUP214, VHL, BCS1L, FOXP3, F10, BRCA1, MTOR, ITGB2, UROS, TPI1, COQ2, MUT, TINF2, CISD2, PEX19, PHGDH, PLAU, FECH, RPS10, MMACHC, SLC37A4, FANCA, HSPA9, HK1, MMAA, F13A1, GCLC, NEU1, ACP5, DDOST, ELANE, LMBRD1, EPOR, FAH, SSR4, SLC2A1, GIF, MLF1, PRKCD, TPMT, SLC46A1, ABCD3, KNG1, NPHP1, ABCG5, LYST, PTPN11, CXCR4, SOS2, B4GALT1, MTR, NUDT15, TGFB1, REN, STAT1, TSR2, MT-CO2, SCO1, GPX1, ABCG8, PCCA, LCAT, CYP2A6, FGFR2, ACTN4, C10orf2, MMADHC, NPM1, GBA, MARS, AMPD3, GLA, FTH1, PDGFRA, CACNA1S, STX11, TACO1, NT5C3A, CD36, PNP, MTRR, TBXAS1, FASLG, ANK1, MYH9, ADA, IVD, ATR, ITGB3, MT-CO1, HSD3B7, SERPINE1, COX10, GATA2

HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [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, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, STAT3, ACTN1, ITGA2B, PLEC, FGA, CBL, ACTN4, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, SOS1, KRAS, FGG, NF1, SPTB, BRAF, KIT, SERPINE1, SOS2

THROMBOCYTHEMIA 2, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, GLANZMANN THROMBASTHENIA, ?BLEEDING DISORDER, PLATELET-TYPE, 18, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, VON WILLEBRAND DISEASE, TYPE 1, HYPERPARATHYROIDISM, NEONATAL, NOONAN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT)

GP1BB, FGA, F2, ITGB3, THPO, FGG, RASGRP2, GP9, MPL, FGB, STAT3, CASR, FLNA, GP1BA, ITGA2B, SOS1, VWF

MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 8, DIAMOND-BLACKFAN ANEMIA 3, DIAMOND-BLACKFAN ANEMIA 10, ?DIAMOND-BLACKFAN ANEMIA 12, DIAMOND-BLACKFAN ANEMIA 6, DIAMOND-BLACKFAN ANEMIA 1, DIAMOND-BLACKFAN ANEMIA 7, DIAMOND-BLACKFAN ANEMIA 5, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND-BLACKFAN ANEMIA 9

RPL5, RPS10, RPS26, RPS19, RPL11, RPS7, RPS14, RPL26, RPS17, RPS28, RPL15, RPS24, RPS29, RPL35A

OROTIC ACIDURIA, HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, OMENN SYNDROME, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FACTOR XIIIA DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, PLEC, ITGB3, SPTA1, PRKCD, FGFR2, PLAU, SMAD4, RAG1, PSMB8, FGB, TGFB1, VWF, NOS3, HLA-DRB1, F2, AGT, NPM1, UMPS, ACTN1, MTOR, ITGA2B, KRAS, FGA, CBL, ACTN4, BRAF, CCND1, IL10, IL2RA, JAK2, TNFAIP3, PDGFRA, RUNX1, LAMTOR2, PTPN11, CYCS, SOS1, FGG, NF1, F13A1, CD40, SPTB, PRKACG, KIT, STAT3, SERPINE1, RAG2, SOS2

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, GALACTOSEMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB

NEU1, PMM2, DPM1, MPI, GALT, SRD5A3

{BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, BLEEDING DISORDER, PLATELET-TYPE, 11, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), THROMBOCYTHEMIA 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, ERYTHROCYTOSIS, FAMILIAL, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PLATELET GLYCOPROTEIN IV DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SEA-BLUE HISTIOCYTE DISEASE, 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, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPERPARATHYROIDISM, NEONATAL, ATRANSFERRINEMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, PRIMARY PULMONARY HYPERTENSION, NOONAN SYNDROME 4, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CAMURATI-ENGELMANN DISEASE, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, QUEBEC PLATELET DISORDER, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, FACTOR XIIIA DEFICIENCY, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, GLYCOGEN STORAGE DISEASE XII, MYELOPEROXIDASE DEFICIENCY, ?BLEEDING DISORDER, PLATELET-TYPE, 18, FACTOR XII DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, FACTOR V DEFICIENCY, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, THROMBOCYTHEMIA 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

GATA1, APOE, GP6, ITGB3, GP9, RASGRP2, PRKCD, PLAU, VWF, F8, GP1BA, PTPN11, FGB, KNG1, TGFB1, F12, NOS3, GP1BB, CD40LG, ALDOA, CASR, AGT, MTOR, VHL, P2RY12, MPL, SCARB2, TBXA2R, FLNA, ITGB2, ITGA2B, HRG, KRAS, CALR, FGA, CBL, ACTN4, THPO, IL2RA, JAK2, STAT1, F2, TF, CD36, ACTN1, MPO, SOS1, FGG, DGKE, F13A1, CD40, STAT3, BRAF, F5, SERPINE1, SERPINF2, BMPR2

GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, FACTOR V DEFICIENCY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, THROMBOCYTHEMIA 3, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PLATELET GLYCOPROTEIN IV 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, GLANZMANN THROMBASTHENIA, ATRANSFERRINEMIA, PRIMARY PULMONARY HYPERTENSION, POLYCYTHEMIA VERA, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CAMURATI-ENGELMANN DISEASE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], FACTOR XIIIA DEFICIENCY, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, GLYCOGEN STORAGE DISEASE XII, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CALR, F2, IL2RA, F5, FGB, TGFB1, VWF, ACTN1, STAT1, ITGB3, KNG1, AGT, HRG, F8, NOS3, FLNA, ITGA2B, FGA, ALDOA, ACTN4, JAK2, TF, CD36, FGG, SERPINF2, F13A1, STAT3, SERPINE1, BMPR2

REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ANEMIA, SIDEROBLASTIC, 4, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, PEUTZ-JEGHERS SYNDROME, BARTH SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, PROPIONICACIDEMIA, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, GAUCHER DISEASE, TYPE IIIC, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, SITOSTEROLEMIA, NORUM DISEASE, BARTTER SYNDROME, TYPE 2, VON WILLEBRAND DISEASE, TYPE 1, GM1-GANGLIOSIDOSIS, TYPE II, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, GREENBERG SKELETAL DYSPLASIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?THROMBOXANE SYNTHASE DEFICIENCY, PYRUVATE KINASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, NOONAN SYNDROME 9, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, YUNIS-VARON SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, BLEEDING DISORDER, PLATELET-TYPE, 17, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, GAUCHER DISEASE, TYPE I, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, FANCONI ANEMIA, COMPLEMENTATION GROUP C, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, POLYCYTHEMIA VERA, SOMATIC, PELGER-HUET ANOMALY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, NIEMANN-PICK DISEASE, TYPE A, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, WOLFRAM SYNDROME 2, GHOSAL HEMATODIAPHYSEAL SYNDROME, WHIM SYNDROME, HYPER-IGD SYNDROME, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, CHANARIN-DORFMAN SYNDROME, 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-, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, INTRINSIC FACTOR DEFICIENCY, LATHOSTEROLOSIS, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, COENZYME Q10 DEFICIENCY, PRIMARY, 1, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ABETALIPOPROTEINEMIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, GM1-GANGLIOSIDOSIS, TYPE III, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, GAUCHER DISEASE, TYPE II, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, FANCM, HBB, GPI, APOB, F8, SRD5A3, LBR, PGK1, RPL5, ALDOA, ITGB3, AGT, PCCB, REN, FGA, BAAT, STK11, LCAT, NEU1, CYCS, SOS1, GFI1B, GPX1, CYP7B1, UMPS, PRKACG, ABHD5, NF1, FIG4, AMN, KRAS, FCGR2B, PLAU, ABCD3, NME1, NOS3, THRA, CCND1, CAD, AKR1D1, MTOR, AMACR, CBL, KCNJ1, JAK2, SC5D, PFKM, ABCG8, CASR, FANCA, STAT3, CUBN, SOS2, SLC35A2, GLB1, SMPD1, SMAD4, VWF, CBS, CD36, MVK, CD40LG, TAZ, BRCA1, ITGB2, ELANE, COQ2, MUT, TINF2, CISD2, CYP2C9, HSPA9, MMAA, MTTP, DDOST, FAH, SSR4, TNFSF11, GIF, PRKCD, ABCG5, PTPN11, CXCR4, TGFB1, STAT1, MT-CO2, PKLR, PCCA, CYP2A6, FGFR2, HSD3B7, GBA, GLA, FANCC, PEX19, SERPINE1, TBXAS1, FASLG, C10orf2, DHFR