HEMATOLOGY

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, INCONTINENTIA PIGMENTI, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LEUKOCYTE ADHESION DEFICIENCY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, [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, PLATELET GLYCOPROTEIN IV DEFICIENCY, NEUTROPENIA, CYCLIC, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, QUEBEC PLATELET DISORDER, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, THROMBOCYTOPENIA 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

RUNX1, PLAU, KNG1, ETV6, TGFB1, C3, CD40LG, NLRC4, AGT, MYD88, STAT3, ITGB2, ELANE, IL10, CFI, JAK2, STAT1, IKBKG, CD36, FASLG, CD40, CD46

{BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, CAMURATI-ENGELMANN DISEASE, BLEEDING DISORDER, PLATELET-TYPE, 11, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?THROMBOXANE SYNTHASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, GLANZMANN THROMBASTHENIA, GHOSAL HEMATODIAPHYSEAL SYNDROME, NOONAN SYNDROME 9, PRIMARY PULMONARY HYPERTENSION, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], ?BLEEDING DISORDER, PLATELET-TYPE, 19, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, HYPERPARATHYROIDISM, NEONATAL, STORMORKEN SYNDROME, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, ?BLEEDING DISORDER, PLATELET-TYPE, 18, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, IMMUNODEFICIENCY 10, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

STIM1, KNG1, ITGB3, RASGRP2, VWF, GP1BA, FGB, TGFB1, FERMT3, TBXA2R, GP1BB, RPL5, F2, CASR, AGT, MTOR, P2RY12, NOS3, ITGA2, ITGB2, ITGA2B, FGA, CCND1, GP6, SOS1, TBXAS1, FASLG, FGG, FLNA, GP9, P2RX1, FCGR2A, BMPR2, PRKACG, SOS2

WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, VON WILLIBRAND DISEASE, TYPE 3, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, FACTOR XIIIB DEFICIENCY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, FACTOR V DEFICIENCY, HEMOPHILIA B, HYPERPARATHYROIDISM, NEONATAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, QUEBEC PLATELET DISORDER, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, FACTOR XIIIA DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, FACTOR XII DEFICIENCY, FACTOR X DEFICIENCY, FACTOR VII DEFICIENCY, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

C3AR1, F5, F2, VWF, RUNX1, PLAU, CD59, KNG1, FGB, C3, F9, CASR, F13B, CD46, F8, F7, FGA, CFI, CFH, CALR, F12, CD81, F10, FGG, SERPINF2, F13A1, CD40, THBD, SERPINE1, CFB

HYPOBETALIPOPROTEINEMIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ATRANSFERRINEMIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

STAT1, TF, CCND1, IL10, APOB, HLA-DRB1, CD40, HLA-DQB1, RFX5, PTPN11, CALR, HLA-DQA1, RFXAP, CIITA, JAK2, RFXANK

MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ATRANSFERRINEMIA, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, LEUKOCYTE ADHESION DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HETEROTOPIA, PERIVENTRICULAR, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

NRAS, CALR, ITGB3, KRAS, PRKCD, CBL, CD59, PRF1, IRF5, FAS, TGFB1, PTPN11, CXCR4, RPL5, FLNA, FOXP3, ITGB2, SOS1, JAK2, IL10, IL2RA, CD244, STAT1, TF, FASLG, SH2D1A, CD40, STAT3, BRAF, SERPINE1, SOS2

ERYTHROCYTOSIS, FAMILIAL, 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, POLYCYTHEMIA VERA, SOMATIC, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU 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, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CAMURATI-ENGELMANN DISEASE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, ERYTHROCYTOSIS, FAMILIAL, 3, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, NOONAN SYNDROME 9, LEUKEMIA, CHRONIC MYELOID, SOMATIC, SMITH-KINGSMORE SYNDROME, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

NRAS, KRAS, EGLN1, CCND1, LPP, MTOR, SLC2A1, VHL, BCR, FH, SERPINE1, PTPN11, BRAF, SOS1, TGFB1, JAK2, SOS2

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {CELIAC DISEASE, SUSCEPTIBILITY TO}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

HLA-DQB1, IL10, HLA-DRB1, CD40LG, CD40, HLA-DQA1, PTPN11

MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC

FASLG, CD40LG, HLA-DQA1, IL10, JAK2, IL2RA, HLA-DRB1, CD40, HLA-DQB1, PRF1, CALR, FAS

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, ?NEUTROPHILIA, HEREDITARY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTHEMIA 2, WHIM SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ACUTE MYELOID LEUKEMIA, M6 TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME

GATA1, CSF3R, PRKCD, IL10, SMAD4, IRF5, MYD88, NOS3, CXCR4, CD40LG, CCND1, AGT, TGFB1, GATA2, MPL, FOXP3, BMPR1A, SOS1, RUNX1, CBL, THPO, IL2RA, JAK2, STAT1, PTPN11, PRF1, EPOR, CD40, STAT3, MTOR, SOS2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, REVESZ SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, 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, PELGER-HUET ANOMALY, CAMURATI-ENGELMANN DISEASE, NIEMANN-PICK DISEASE, TYPE A, TYROSINEMIA, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, INCONTINENTIA PIGMENTI, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARTH SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, ERYTHROCYTOSIS, FAMILIAL, 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, ?THROMBOXANE SYNTHASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, DIAMOND-BLACKFAN ANEMIA 6, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, GHOSAL HEMATODIAPHYSEAL SYNDROME, NORUM DISEASE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE III, HYPOBETALIPOPROTEINEMIA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, GREENBERG SKELETAL DYSPLASIA, OROTIC ACIDURIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), SMITH-KINGSMORE SYNDROME, LATHOSTEROLOSIS, SENGERS SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, GLYCOGEN STORAGE DISEASE XII, IMMUNODEFICIENCY 46, GAUCHER DISEASE, TYPE I, GLYCOGEN STORAGE DISEASE VII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, GAUCHER DISEASE, TYPE II, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, GAUCHER DISEASE, TYPE IIIC, DIAMOND-BLACKFAN ANEMIA 9, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, FANCONI ANEMIA, COMPLEMENTATION GROUP C

FASLG, APOB, PFKM, GLB1, AMACR, SMPD1, PRKCD, CBL, CYP2C9, BCS1L, SRD5A3, LBR, SC5D, TGFB1, NOS3, CXCR4, RPL5, KRAS, TNFSF11, TAZ, AGT, SMAD9, REN, VHL, UMPS, MT-CO2, NEU1, GPX1, BRCA1, MTOR, SLC35A2, CYP2A6, ALDOA, ACTN4, TINF2, GBA, LCAT, GLA, TERT, FANCC, IKBKG, HSD3B7, AGK, CBS, PEX19, AKR1D1, TBXAS1, TFRC, RPS10, FANCA, DGKE, CYP7B1, CD40, CAD, STAT3, BAAT, DDOST, C10orf2, SSR4, SERPINE1, FANCM, NF1, FAH

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LEUKOCYTE ADHESION 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, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, GLANZMANN THROMBASTHENIA, TRANSALDOLASE DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, HYPOBETALIPOPROTEINEMIA, CAMURATI-ENGELMANN DISEASE, RHEUMATOID ARTHRITIS, SPHEROCYTOSIS, TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

ITGB3, APOB, MMP1, SMAD4, CIITA, PTPN11, CXCR4, CD40LG, CLDN1, TGFB1, HLA-DRB1, NOS3, ITGB2, IL10, CCND1, STAT1, HLA-DQB1, TALDO1, CALR, CTLA4, FASLG, ANK1, OCLN, CD40, HLA-DQA1, CD81, BMPR2

THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, 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, ASPARTYLGLUCOSAMINURIA, MANNOSIDOSIS, ALPHA-, TYPES I AND II, GAUCHER DISEASE, PERINATAL LETHAL, NIEMANN-PICK DISEASE TYPE C1, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, NIEMANN-PICK DISEASE, TYPE C2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, COMBINED FACTOR V AND VIII DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ATRANSFERRINEMIA, GM1-GANGLIOSIDOSIS, TYPE III, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, RHEUMATOID ARTHRITIS, NIEMANN-PICK DISEASE, TYPE A, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, WHIM SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PORENCEPHALY 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY 46, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, HERMANSKY-PUDLAK SYNDROME 2, SEA-BLUE HISTIOCYTE DISEASE, GAUCHER DISEASE, TYPE II, GAUCHER DISEASE, TYPE IIIC, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, GAUCHER DISEASE, TYPE I, GLYCOGEN STORAGE DISEASE VII, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

APOE, LMAN1, GLB1, SMPD1, MMP1, ACP2, CIITA, PICALM, CXCR4, ACP5, AP3B1, GPI, COL4A1, TCIRG1, SCARB2, SLC11A2, CLN3, CALR, MAN2B1, GBA, GLA, PFKM, AGA, NPC1, TFRC, TF, NME1, NEU1, NPC2

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CAMURATI-ENGELMANN DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, BONE MARROW FAILURE SYNDROME 1, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, GLANZMANN THROMBASTHENIA, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPOBETALIPOPROTEINEMIA, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, LYMPHOPROLIFERATIVE SYNDROME 1, RHEUMATOID ARTHRITIS, QUEBEC PLATELET DISORDER, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, ATRANSFERRINEMIA, MYELOPEROXIDASE DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE VII, IMMUNODEFICIENCY 46, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PLATELET GLYCOPROTEIN IV DEFICIENCY

TF, ITGB3, APOB, RPS14, IL10, PLAU, HBA1, SRP72, C3, PTPN11, RPL5, TUBB1, CBS, TGFB1, STAT1, TCIRG1, ITGA2, ITGB2, ELANE, FCGR2B, CBL, HLA-DRB1, STX11, PFKM, CD36, MPO, TMEM173, HLA-DQB1, CALR, ITK, FCGR2A, TFRC, HLA-DQA1, MYD88

REVESZ SYNDROME, FACTOR V DEFICIENCY, CAMURATI-ENGELMANN DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, ?NEUTROPHILIA, HEREDITARY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, FACTOR XIIIB DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, TRANSALDOLASE DEFICIENCY, BENT BONE DYSPLASIA SYNDROME, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, SPHEROCYTOSIS, TYPE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, STORMORKEN SYNDROME, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FACTOR XII DEFICIENCY, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, ACUTE MYELOID LEUKEMIA, M6 TYPE, 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}, GLANZMANN THROMBASTHENIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, GREENBERG SKELETAL DYSPLASIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, ?THROMBOXANE SYNTHASE DEFICIENCY, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, 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, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, MYELOPEROXIDASE DEFICIENCY, FACTOR X DEFICIENCY, FACTOR VII DEFICIENCY, IVIC SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, PELGER-HUET ANOMALY, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, HETEROTOPIA, PERIVENTRICULAR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, GHOSAL HEMATODIAPHYSEAL SYNDROME, WHIM SYNDROME, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HEMOPHILIA B, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, HYPERPARATHYROIDISM, NEONATAL, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, VON WILLEBRAND DISEASE, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 11, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MAY-HEGGLIN ANOMALY, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, LYMPHOPROLIFERATIVE SYNDROME 2, QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, THROMBOCYTOPENIA 5, IMMUNODEFICIENCY 10, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, C3AR1, F2, HBB, APOB, MMP1, P2RY12, F5, LBR, PGK1, CIITA, TBXA2R, RPL5, ALDOA, AGT, FLT3, TREX1, ITGA2B, RASGRP2, FGA, F8, CD244, SALL4, TFRC, CYCS, MPO, PRF1, FGG, ADAR, CD40, PRKACG, CD81, GP1BA, F13A1, KRAS, RUNX1, CBL, PLAU, FCGR2B, FAS, IRF5, HBA1, F9, FGB, NOS3, GP1BB, CCND1, CAD, IKBKG, MTOR, EPHX1, CFH, THPO, SCARB2, BMPR1A, ITGA2, RFXAP, CD27, IL10, HLA-DQA1, CARD9, JAK2, HLA-DRB1, TALDO1, GP6, C3, TMEM173, SERPINF2, NLRC4, SH2D1A, ITK, STAT3, BRAF, F7, HRG, BMPR2, TNFSF11, GATA1, FCGR2A, LARS, STIM1, TF, ITGB3, IL2RA, NRAS, SMAD4, VWF, CD36, CD40LG, FLNA, CASR, NUP214, FOXP3, TBXAS1, BRCA1, ITGB2, IFIH1, ELANE, CFI, FASLG, PSTPIP1, XRCC4, FERMT3, THBD, DDOST, TPI1, NFKBIL1, KIT, BCR, NHP2, OCLN, CSF3R, NME1, SLC2A1, GP9, PRKCD, CD59, P2RX1, KNG1, CASP10, CLDN1, PTPN11, CXCR4, SOS2, TNFAIP3, MYH9, TGFB1, F13B, STAT1, WAS, MT-CO2, RFX5, RFXANK, SOS1, CFB, FGFR2, ACTN4, CD3G, RPL11, FTH1, STX11, CALR, F12, ACTN1, CTLA4, F10, ETV6, HLA-DQB1, ANK1, EPOR, ATR, CD46, MYD88, COL7A1, TINF2, SERPINE1, NPM1

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, INCONTINENTIA PIGMENTI, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, CAMURATI-ENGELMANN DISEASE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, WISKOTT-ALDRICH SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, FACTOR XIIIA DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, THROMBOCYTOPENIA 5, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HETEROTOPIA, PERIVENTRICULAR, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

F2, ITK, PRKCD, IL10, ETV6, TGFB1, BMPR1A, ACP5, ITGB3, AGT, MYD88, MTOR, HLA-DRB1, STAT3, FLT3, PTPN11, FLNA, SOS1, FCGR2B, TNFSF11, WAS, JAK2, STAT1, IKBKG, F13A1, CD40, FCGR2A, BMPR2, SERPINE1, SOS2

POLYCYTHEMIA VERA, SOMATIC, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, THROMBOCYTHEMIA 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 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, ?HEMOCHROMATOSIS, TYPE 5, [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, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ATRANSFERRINEMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CAMURATI-ENGELMANN DISEASE, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ERYTHROCYTOSIS, FAMILIAL, 3, MEDULLARY CYSTIC KIDNEY DISEASE 1, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XII, IMMUNODEFICIENCY 46, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME

ITGB3, PRKCD, PGK1, TGFB1, PTPN11, CXCR4, MUC1, SLC2A1, AGT, MTOR, VHL, NOS3, ALDOA, EGLN1, JAK2, FTH1, TF, TFRC, FANCA, HK1, STAT3, PRKACG, SERPINE1

MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DIAMOND-BLACKFAN ANEMIA 6, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {CELIAC DISEASE, SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC

FASLG, HLA-DRB1, HLA-DQA1, IL10, JAK2, RPL5, CD40, HLA-DQB1, PRF1, CALR, FAS, CTLA4

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, EMBERGER SYNDROME, 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, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, ?NEUTROPHILIA, HEREDITARY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, THROMBOCYTHEMIA 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HERMANSKY-PUDLAK SYNDROME 9, RHEUMATOID ARTHRITIS, LYMPHOPROLIFERATIVE SYNDROME 2, HYPERPARATHYROIDISM, NEONATAL, CAMURATI-ENGELMANN DISEASE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FACTOR XIIIA DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MYELOPEROXIDASE DEFICIENCY, 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, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], ACUTE MYELOID LEUKEMIA, M6 TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME

GATA1, CSF3R, RPL5, TNFSF11, PRKCD, CBL, SMAD4, PRF1, KNG1, FAS, ACTN1, MYD88, TBXA2R, CXCR4, CD40LG, MPL, CASR, AGT, TGFB1, NUP214, THBD, NOS3, FLT3, FOXP3, BMPR1A, MTOR, CD27, TPI1, RUNX1, IL10, F2, THPO, IL2RA, JAK2, STAT1, PDGFRA, EPOR, STX11, PTPN11, C3, MPO, FASLG, BLOC1S6, OCLN, F13A1, CD40, STAT3, KIT, SERPINE1, GATA2, BMPR2

FANCONI ANEMIA, COMPLEMENTATION GROUP E, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, FANCONI ANEMIA, COMPLEMENTATION GROUP L, FANCONI ANEMIA, COMPLEMENTATION GROUP A, FANCONI ANEMIA, COMPLEMENTATION GROUP P, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SECKEL SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP T, FANCONI ANEMIA, COMPLEMENTATION GROUP C

FANCL, BRCA2, BRCA1, FANCE, ERCC4, UBE2T, FANCC, FANCA, ATR, SLX4, FANCM, FANCD2

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, INCONTINENTIA PIGMENTI, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LEUKOCYTE ADHESION DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, [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, NEUTROPENIA, CYCLIC, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RHEUMATOID ARTHRITIS, HYPERPARATHYROIDISM, NEONATAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}

CD40LG, CASR, CCND1, AGT, IKBKG, JAK2, STAT1, IL10, CD46, NLRC4, SMAD4, C3, ITGB2, CYCS, MYD88, APOB, ELANE

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CAMURATI-ENGELMANN DISEASE, INCONTINENTIA PIGMENTI, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], WISKOTT-ALDRICH SYNDROME, FACTOR XIIIA DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

FCGR2B, FCGR2A, STAT1, KNG1, IL10, TGFB1, JAK2, CD40LG, F13A1, HLA-DRB1, IKBKG, SERPINE1, HLA-DQB1, STAT3, HLA-DQA1, ITGB2, WAS, CD81, CIITA, C3, MYD88

HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, QUEBEC PLATELET DISORDER, CAMURATI-ENGELMANN DISEASE, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?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, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, PLATELET GLYCOPROTEIN IV DEFICIENCY, NOONAN SYNDROME 9, NEUTROPENIA, CYCLIC, ERYTHROCYTOSIS, FAMILIAL, 2, BLEEDING DISORDER, PLATELET-TYPE, 15, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], PORENCEPHALY 1, FACTOR XIIIA DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SMITH-KINGSMORE SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

ITGB3, REN, PRKCD, PLAU, CD59, KNG1, TGFB1, NOS3, CD40LG, MTOR, VHL, COL4A1, ACTN1, ITGA2, ITGB2, SOS1, ELANE, IL10, ACTN4, JAK2, HLA-DRB1, MMP1, CD36, F13A1, STAT3, SOS2, PRKACG, SERPINE1, COL7A1

THROMBOCYTOPENIA 4, LEUKOCYTE ADHESION DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DIAMOND-BLACKFAN ANEMIA 6, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}

FASLG, HLA-DRB1, HLA-DQA1, CCND1, IL10, CD40LG, RPL5, CD40, HLA-DQB1, PRF1, CALR, ITGB2, CYCS

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, CAMURATI-ENGELMANN DISEASE, NIEMANN-PICK DISEASE, TYPE A, THROMBOCYTHEMIA 3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, GLANZMANN THROMBASTHENIA, PLATELET GLYCOPROTEIN IV DEFICIENCY, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, NIEMANN-PICK DISEASE, TYPE B, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, SEA-BLUE HISTIOCYTE DISEASE, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

APOE, ITGB3, HBB, SMPD1, MMP1, KNG1, HBA1, MYD88, PTPN11, CD40LG, AGT, TGFB1, STAT3, ITGB2, ELANE, IL10, ACTN4, JAK2, CD36, FASLG, CD40, CD46, CD81

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, INCONTINENTIA PIGMENTI, THROMBOCYTHEMIA 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, [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, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, PLATELET GLYCOPROTEIN IV DEFICIENCY, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], CAMURATI-ENGELMANN DISEASE, FACTOR XIIIA DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

KRAS, PRKCD, KNG1, TGFB1, CD36, PTPN11, CXCR4, CD40LG, CIITA, MTOR, STAT1, F8, ELANE, IL10, CCND1, JAK2, HLA-DRB1, IKBKG, HLA-DQB1, CYCS, FASLG, F13A1, CD40, STAT3, HLA-DQA1, SERPINE1, MYD88

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, REVESZ SYNDROME, POLYCYTHEMIA VERA, SOMATIC, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, AICARDI-GOUTIERES SYNDROME 7, INCONTINENTIA PIGMENTI, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, MAY-HEGGLIN ANOMALY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, 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, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, FECHTNER SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AICARDI-GOUTIERES SYNDROME 6, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, RHEUMATOID ARTHRITIS, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SEBASTIAN SYNDROME, QUEBEC PLATELET DISORDER, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2

GATA1, TNFSF11, APOB, PRKCD, CBL, PLAU, ADAR, PRF1, IFIH1, FAS, TGFB1, PTPN11, CXCR4, STAT1, F2, NLRC4, IKBKG, NPM1, IL10, HLA-DQA1, CCND1, JAK2, HLA-DRB1, HLA-DQB1, CYCS, FASLG, MYH9, CD40, CIITA, STAT3, TINF2, SERPINE1, MTOR, MYD88

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, POLYCYTHEMIA VERA, SOMATIC, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, ANEMIA, SIDEROBLASTIC, 4, INCONTINENTIA PIGMENTI, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, ERYTHROCYTOSIS, FAMILIAL, 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, [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, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, HYPERPARATHYROIDISM, NEONATAL, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 17, THROMBOCYTOPENIA 5, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

KNG1, KRAS, PRKCD, IFIH1, FAS, ETV6, IKBKG, CYCS, PTPN11, CXCR4, RPL5, CASR, TGFB1, CFB, HLA-DRB1, VHL, IL10, CCND1, JAK2, STAT1, HLA-DQB1, STX11, CALR, C3, FASLG, HSPA9, GFI1B, CD40, STAT3, HLA-DQA1, SERPINE1, MTOR, MYD88

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, 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, SECKEL SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LEUKOCYTE ADHESION DEFICIENCY, POLYCYTHEMIA VERA, SOMATIC, 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, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DIAMOND-BLACKFAN ANEMIA 6, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, BENT BONE DYSPLASIA SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, HYPERPARATHYROIDISM, NEONATAL, CAMURATI-ENGELMANN DISEASE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HETEROTOPIA, PERIVENTRICULAR, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, NOONAN SYNDROME 4

GATA1, NRAS, RPL5, BRCA2, ITGB3, KRAS, IL2RA, FGFR2, CIITA, SMAD4, CD40, IKBKG, NOS3, CXCR4, CD40LG, FTL, SLC2A1, CASR, TGFB1, GATA2, HLA-DRB1, MT-CO2, FLT3, PRF1, FOXP3, ACTN1, BRCA1, ITGB2, SOS1, CBL, PRKACG, CCND1, THRA, IL10, RUNX1, JAK2, STAT1, PDGFRA, CALR, PTPN11, HLA-DQB1, FLNA, TERT, ATR, STAT3, HLA-DQA1, CD3G, SERPINE1, MTOR, SOS2

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, INCONTINENTIA PIGMENTI, WHIM SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, GLANZMANN THROMBASTHENIA, PLATELET GLYCOPROTEIN IV DEFICIENCY, NOONAN SYNDROME 9, TRANSALDOLASE DEFICIENCY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, CAMURATI-ENGELMANN DISEASE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, THROMBOCYTOPENIA 5, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME

NRAS, ITGB3, KRAS, SMAD4, IRF5, ETV6, TGFB1, PTPN11, CXCR4, STAT1, CIITA, MTOR, SOS1, CLDN1, IL10, JAK2, IKBKG, TALDO1, CD36, PRF1, OCLN, CD40, STAT3, BRAF, KIT, CD81, SOS2

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, SEA-BLUE HISTIOCYTE DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTHEMIA 3, INCONTINENTIA PIGMENTI, AICARDI-GOUTIERES SYNDROME 7, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEMOCHROMATOSIS, TYPE 2B, [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, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], CAMURATI-ENGELMANN DISEASE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THROMBOCYTOPENIA 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME

APOE, IRF5, KRAS, PRKCD, NRAS, SMAD4, CD40, IFIH1, FAS, CASP10, IKBKG, ETV6, ACTN1, CXCR4, STAT1, KNG1, TGFB1, MTOR, IL10, CCND1, JAK2, PRF1, CYCS, FASLG, HAMP, STAT3, SERPINE1, MYD88

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, THROMBOCYTHEMIA 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, MAY-HEGGLIN ANOMALY, WHIM SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPOBETALIPOPROTEINEMIA, FECHTNER SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, AICARDI-GOUTIERES SYNDROME 6, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, RHEUMATOID ARTHRITIS, SEBASTIAN SYNDROME, QUEBEC PLATELET DISORDER, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, EPSTEIN SYNDROME, IMMUNODEFICIENCY 46, 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, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, SMITH-KINGSMORE SYNDROME

IRF5, APOB, PRKCD, CBL, PLAU, ADAR, PRF1, IFIH1, FAS, MYD88, PTPN11, CXCR4, STAT1, CD3G, MYH9, TGFB1, MTOR, STAT3, TNFAIP3, BRCA1, RUNX1, FCGR2B, CCND1, IL10, IL2RA, JAK2, CD40LG, FASLG, GFI1B, SH2D1A, CD40, CD46, TFRC

GM1-GANGLIOSIDOSIS, TYPE III, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, EPSTEIN SYNDROME, GLYCOGEN STORAGE DISEASE IA, FECHTNER SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, GLYCOGEN STORAGE DISEASE VII, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, GALACTOSEMIA, SEBASTIAN SYNDROME, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, GM1-GANGLIOSIDOSIS, TYPE II, MAY-HEGGLIN ANOMALY, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT

B4GALT1, GLB1, MYH9, HK1, GLA, PFKM, GALT, G6PC, G6PC3

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, 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, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, BLEEDING DISORDER, PLATELET-TYPE, 11, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, INCONTINENTIA PIGMENTI, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, WHIM SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, CAMURATI-ENGELMANN DISEASE, LYMPHOPROLIFERATIVE SYNDROME 1, RHEUMATOID ARTHRITIS, LEUKOCYTE ADHESION DEFICIENCY, MEDULLARY CYSTIC KIDNEY DISEASE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MYELOPEROXIDASE DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, GLYCOGEN STORAGE DISEASE VII, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE XII, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, OMENN SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, THROMBOCYTHEMIA 3, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

FASLG, RPL5, CALR, TNFSF11, XRCC4, CD40LG, IL2RA, IL10, CIITA, SMAD4, PRF1, RFXANK, FAS, PGK1, IKBKG, NOS3, CXCR4, ACP5, MUC1, DCLRE1C, ALDOA, KNG1, TGFB1, NUP214, HLA-DRB1, GPI, FCGR2A, TCIRG1, RFX5, FOXP3, BMPR1A, ITGB2, RFXAP, ELANE, CBL, ACTN4, HLA-DQA1, CCND1, RUNX1, JAK2, STAT1, MMP1, PFKM, RAG1, C3, ACTN1, CTLA4, ACVRL1, MPO, HLA-DQB1, ITK, ADA, RAG2, F13A1, CD59, CD40, GP6, STAT3, AIRE, NFKBIL1, PTPN11, CD81, SERPINF2, MYD88

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, COPROPORPHYRIA, HARDEROPORPHYRIA, HEMOCHROMATOSIS, TYPE 4, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, ANEMIA, SIDEROBLASTIC, 4, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, ANEMIA, SIDEROBLASTIC, 1

CPOX, HSPA9, SLC40A1, ALAS2, CP, MMAB, ABCB7, FECH, ALAD, UROS, COX10

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, ERYTHROCYTOSIS, FAMILIAL, 3, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, FUMARASE DEFICIENCY, INCONTINENTIA PIGMENTI, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, BLEEDING DISORDER, PLATELET-TYPE, 11, NIJMEGEN BREAKAGE SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, WHIM SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, ?HEMOCHROMATOSIS, TYPE 5, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, GLANZMANN THROMBASTHENIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, PLATELET GLYCOPROTEIN IV DEFICIENCY, NOONAN SYNDROME 9, LEUKEMIA, CHRONIC MYELOID, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CAMURATI-ENGELMANN DISEASE, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, LEUKOCYTE ADHESION DEFICIENCY, SEBASTIAN SYNDROME, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, PORENCEPHALY 1, EPSTEIN SYNDROME, 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, KABUKI SYNDROME 1, NEUTROPENIA, CYCLIC, THROMBOCYTOPENIA 5, HETEROTOPIA, PERIVENTRICULAR, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, THROMBOCYTHEMIA 3, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, SMITH-KINGSMORE SYNDROME, NOONAN SYNDROME 4

NRAS, BRCA2, SLC2A1, KRAS, PRKCD, CBL, MMP1, SMAD4, CD40, ETV6, F2, TGFB1, CYCS, ACTN1, CXCR4, SOS2, CD40LG, ITGA2B, KMT2D, ITGB3, MYH9, AGT, IKBKG, GATA2, VHL, SCARB2, COL4A1, FLT3, NOS3, ITGA2, ITGB2, SOS1, APOB, ELANE, CCND1, FGFR2, ACTN4, BRCA1, EGLN1, NPM1, RUNX1, JAK2, STAT1, FH, PDGFRA, GP6, FTL, CD36, NBN, SERPINE1, CEBPA, FTH1, FASLG, GFI1B, SMAD9, FLNA, HAMP, STAT3, MYD88, MECOM, BRAF, PTPN11, KIT, BCR, MTOR, COL7A1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, THROMBOCYTHEMIA 3, PYRUVATE KINASE DEFICIENCY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEMOCHROMATOSIS, TYPE 2B, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, PEUTZ-JEGHERS 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, DIAMOND-BLACKFAN ANEMIA 6, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, FECHTNER SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, RHEUMATOID ARTHRITIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, SEBASTIAN SYNDROME, CAMURATI-ENGELMANN DISEASE, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, EPSTEIN SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME

PRF1, F2, PRKCD, LARS, SMAD4, MT-CO2, FAS, TGFB1, CD40, NOS3, RPL5, FTL, MYH9, AGT, GATA2, HLA-DRB1, BCS1L, PKLR, JAK2, CBL, STK11, CCND1, IL10, COX6B1, FASLG, VPS33B, COX4I2, CALR, CYCS, UMOD, CEBPA, HLA-DQB1, HK1, COX8A, HAMP, STAT3, DDOST, AIRE, HLA-DQA1, PTPN11, SERPINE1, MTOR, MT-CO1

CAMURATI-ENGELMANN DISEASE, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, BONE MARROW FAILURE SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, AICARDI-GOUTIERES SYNDROME 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, GLANZMANN THROMBASTHENIA, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, 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, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ATRANSFERRINEMIA, NOONAN SYNDROME 9, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, BLEEDING DISORDER, PLATELET-TYPE, 15, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, HYPERPARATHYROIDISM, NEONATAL, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, BLEEDING DISORDER, PLATELET-TYPE, 11, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MAY-HEGGLIN ANOMALY, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, FACTOR XIIIA DEFICIENCY, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, THROMBOCYTOPENIA 5, HETEROTOPIA, PERIVENTRICULAR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, C3AR1, F2, APOB, IFIH1, FAS, CIITA, BMPR1A, TUBB1, ITGB3, AGT, FGA, CYCS, PRF1, FGG, CD40, PRKACG, CD81, KRAS, RUNX1, IL10, PLAU, NME1, HBA1, ETV6, NOS3, CCND1, CAD, IKBKG, MTOR, SCARB2, ACTN1, RFXAP, CBL, HLA-DQA1, CARD9, JAK2, HLA-DRB1, TCIRG1, C3, TMEM173, RPS10, NLRC4, GP6, WAS, SEC23B, SOS2, FCGR2A, PFKM, ALDOA, REN, RPS14, SMAD4, VWF, CBS, SRP72, CD40LG, FLNA, CASR, CFB, FOXP3, BRCA1, ITGB2, ELANE, CFI, HLA-DQB1, PSTPIP1, HSPA9, F13A1, CFH, NFKBIL1, EPOR, SSR4, TNFSF11, PRKCD, KNG1, CASP10, CLDN1, NPHP1, PTPN11, CXCR4, FCGR2B, MYH9, TGFB1, STAT1, STAT3, MT-CO2, RFX5, RFXANK, SOS1, FGFR2, ACTN4, RPL11, TF, CD36, FASLG, CALR, OCLN, CD46, MYD88, SERPINE1

GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, CAMURATI-ENGELMANN DISEASE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FACTOR XIIIA DEFICIENCY, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HETEROTOPIA, PERIVENTRICULAR, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

ITGB3, IL10, SMAD4, PRF1, KNG1, ACTN4, TGFB1, ACTN1, RPL5, FLNA, HLA-DRB1, FOXP3, PTPN11, ITGA2, ITGB2, ITGA2B, CBL, STK11, HLA-DQA1, CCND1, CD40LG, CACNA1S, CALR, CYCS, SOS1, F10, HLA-DQB1, F13A1, CD40, PRKACG, SERPINE1

HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, 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, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, BLEEDING DISORDER, PLATELET-TYPE, 15, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, NEUTROPENIA, CYCLIC, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

FCGR2A, IL10, ACTN4, KNG1, MMP1, SERPINF2, CD40LG, RUNX1, HLA-DRB1, CD40, HLA-DQB1, CD59, ELANE, CALR, HLA-DQA1, C3, ACTN1

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, THROMBOCYTHEMIA 3, LEUKOCYTE ADHESION DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, WHIM SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, CAMURATI-ENGELMANN DISEASE, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], GLYCOGEN STORAGE DISEASE XII, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE VII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

TCIRG1, ALDOA, CBL, MMP1, SMAD4, KNG1, FAS, PGK1, TGFB1, PTPN11, CXCR4, CD40LG, TNFSF11, ITGB2, IL10, JAK2, HLA-DRB1, HLA-DQB1, PFKM, CTLA4, FASLG, CD40, STAT3, ACP5, HLA-DQA1

REVESZ SYNDROME, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CAMURATI-ENGELMANN DISEASE, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NIJMEGEN BREAKAGE SYNDROME, FACTOR V DEFICIENCY, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, TRANSALDOLASE DEFICIENCY, BENT BONE DYSPLASIA SYNDROME, FECHTNER SYNDROME, DIAMOND-BLACKFAN ANEMIA 3, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, MEDULLARY CYSTIC KIDNEY DISEASE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, NOONAN SYNDROME 4, 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, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, DIAMOND-BLACKFAN ANEMIA 8, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEMOCHROMATOSIS, TYPE 2B, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, DIAMOND-BLACKFAN ANEMIA 6, ATRANSFERRINEMIA, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, [BOMBAY PHENOTYPE], IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, FACTOR X DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 17, SEBASTIAN SYNDROME, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, WHIM SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, 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, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, HERMANSKY-PUDLAK SYNDROME 7, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, IMMUNODEFICIENCY, COMMON VARIABLE, 13, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, COPROPORPHYRIA, HARDEROPORPHYRIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, LYMPHOPROLIFERATIVE SYNDROME 2, DIAMOND-BLACKFAN ANEMIA 7, FACTOR XIIIA DEFICIENCY, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, THROMBOCYTOPENIA 5, HETEROTOPIA, PERIVENTRICULAR, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

APOE, BRCA2, F2, APOB, MMP1, MT-CO2, F5, FAS, FUT2, CIITA, ACTN1, RPL5, FTL, ITGA2B, IKZF1, TFRC, NEU1, HLA-DQA1, CYCS, NBN, PRF1, GFI1B, ADAR, CD40, PRKACG, CD81, IFIH1, KRAS, RUNX1, CBL, LZTR1, NME1, HBA1, NOS3, CPOX, CAD, IKBKG, MTOR, HLA-DRB1, SCARB2, CD27, IL10, RPS24, CCND1, JAK2, MUC1, VPS33B, TALDO1, C3, FCGR2B, NLRC4, FANCA, SH2D1A, STAT3, BRAF, HRG, SOS2, TNFSF11, GATA1, CALR, ITGB3, IL2RA, SMAD4, ETV6, CD40LG, FLNA, CASR, NUP214, VHL, FOXP3, BRCA1, ITGB2, DTNBP1, FASLG, TERT, HOXA11, HSPA9, RPS7, F13A1, HAMP, KIT, NRAS, IRF5, SLC2A1, PRKCD, KNG1, CASP10, CLDN1, PTPN11, CXCR4, TNFAIP3, MYH9, TGFB1, STAT1, F8, FLT3, SOS1, CFB, FGFR2, CD3G, NPM1, RPL11, THRA, PDGFRA, STX11, TF, CD36, F10, HLA-DQB1, OCLN, ATR, CD46, MYD88, TINF2, SERPINE1, GATA2

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, FACTOR XIIIA DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LYMPHOPROLIFERATIVE SYNDROME 1, CAMURATI-ENGELMANN DISEASE, RHEUMATOID ARTHRITIS, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED

HLA-DRB1, HLA-DQA1, IL10, CIITA, JAK2, ITK, STAT1, MYD88, HLA-DQB1, STAT3, FOXP3, KNG1, F13A1, TGFB1, NOS3

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, ERYTHROCYTOSIS, FAMILIAL, 3, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, FUMARASE DEFICIENCY, INCONTINENTIA PIGMENTI, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, BLEEDING DISORDER, PLATELET-TYPE, 11, NOONAN SYNDROME 4, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ?NEUTROPHILIA, HEREDITARY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LEUKOCYTE ADHESION DEFICIENCY, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, NEUTROPENIA, CYCLIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, WHIM SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ?HEMOCHROMATOSIS, TYPE 5, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], FANCONI ANEMIA, COMPLEMENTATION GROUP A, PLATELET GLYCOPROTEIN IV DEFICIENCY, NOONAN SYNDROME 9, LEUKEMIA, CHRONIC MYELOID, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], DIAMOND-BLACKFAN ANEMIA 6, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CAMURATI-ENGELMANN DISEASE, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, HYPERPARATHYROIDISM, NEONATAL, ?BLEEDING DISORDER, PLATELET-TYPE, 18, SEBASTIAN SYNDROME, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, PORENCEPHALY 1, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, DIAMOND-BLACKFAN ANEMIA 7, FECHTNER SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, EPSTEIN SYNDROME, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, KABUKI SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, THROMBOCYTOPENIA 5, HETEROTOPIA, PERIVENTRICULAR, THROMBOCYTHEMIA 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, SMITH-KINGSMORE SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

FGFR2, CSF3R, BRCA2, ITGB3, RASGRP2, APOB, PRKCD, NRAS, MMP1, SMAD4, KNG1, FAS, ETV6, F2, IKBKG, CD36, TBXA2R, CXCR4, SOS2, CD40LG, ITGA2B, KMT2D, CCND1, MYH9, AGT, TGFB1, GATA2, STAT1, VHL, SCARB2, COL4A1, FLT3, FOXP3, NOS3, ITGA2, ITGB2, SOS1, KRAS, ELANE, CBL, ACTN4, BRCA1, EGLN1, RUNX1, JAK2, RPL11, RPL5, PDGFRA, FH, GP6, FTL, CYCS, ACTN1, FLNA, SERPINE1, CEBPA, FTH1, FASLG, CASR, GFI1B, NHP2, SLC2A1, CD40, BRAF, STAT3, MYD88, MECOM, PRKACG, PTPN11, KIT, BCR, MTOR, COL7A1

{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, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, INCONTINENTIA PIGMENTI, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, POLYCYTHEMIA VERA, SOMATIC, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, LYMPHOPROLIFERATIVE SYNDROME 1, RHEUMATOID ARTHRITIS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME

NRAS, KRAS, RUNX1, CBL, IKBKG, PTPN11, CD40LG, CD3G, CAD, MTOR, FOXP3, SOS1, IL10, CCND1, PRKCD, JAK2, HLA-DRB1, CTLA4, FASLG, ITK, CD40, STAT3, SERPINE1, SOS2

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, DIAMOND-BLACKFAN ANEMIA 6, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

RPL5, PIGA, DPM1, ALG6, B4GALT1, MGAT2, DDOST, DPAGT1, STT3B, ALG2, ALG13, KRAS

REVESZ SYNDROME, FACTOR V DEFICIENCY, CAMURATI-ENGELMANN DISEASE, MANNOSIDOSIS, ALPHA-, TYPES I AND II, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, DIAMOND-BLACKFAN ANEMIA 5, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, BONE MARROW FAILURE SYNDROME 1, COMBINED FACTOR V AND VIII DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PORENCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, GAUCHER DISEASE, TYPE IIIC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, NIEMANN-PICK DISEASE TYPE C1, INCONTINENTIA PIGMENTI, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, BLEEDING DISORDER, PLATELET-TYPE, 17, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, GAUCHER DISEASE, TYPE I, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, NIEMANN-PICK DISEASE, TYPE A, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, PEROXISOME BIOGENESIS DISORDER 3B, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, NIEMANN-PICK DISEASE, TYPE C2, WHIM SYNDROME, HYPER-IGD SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, 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, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ASPARTYLGLUCOSAMINURIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CEROID LIPOFUSCINOSIS, NEURONAL, 3, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, GLANZMANN THROMBASTHENIA, GM1-GANGLIOSIDOSIS, TYPE III, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HETEROTOPIA, PERIVENTRICULAR, 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

APOE, LMAN1, F2, AMACR, CLN3, MMP1, ACP2, PGK1, CIITA, BMPR1A, RPL5, TUBB1, GLB1, AGT, SLC11A2, SMPD1, BAAT, STK11, MAN2B1, RPS14, PRF1, NEU1, MPO, NPC1, TFRC, PICALM, GFI1B, CD40, HLA-DQA1, APOB, F5, KRAS, IL10, PLAU, NME1, HBA1, NOS3, IKBKG, MTOR, GPI, NPC2, SCARB2, ACTN1, ITGA2, CBL, GLA, HLA-DRB1, PFKM, C3, CD36, ABCD4, CASR, STAT3, MYD88, TCIRG1, ALDOA, SLC35A2, IL2RA, SMAD4, CBS, PEX19, MVK, CD40LG, SRP72, HRG, COL4A1, ITGB2, ELANE, TMEM173, SH3GL1, ABCD3, ACVRL1, ACP5, DDOST, KIT, SSR4, FLNA, PRKCD, KNG1, TGFB1, PTPN11, PEX12, FCGR2B, AP3B1, STAT1, F8, RPL35A, CXCR4, FGFR2, ACTN4, GBA, RPL11, PDGFRA, STX11, TF, AGA, SERPINE1, HLA-DQB1, CALR, OCLN, VPS45, FCGR2A, ITGB3, TINF2, DHFR, NPM1

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, INCONTINENTIA PIGMENTI, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, {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, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 9, LEUKEMIA, CHRONIC MYELOID, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME

GATA1, NRAS, KRAS, CCND1, RUNX1, JAK2, PRKCD, SMAD4, FLT3, STAT3, CEBPA, BRAF, KIT, BCR, SOS1, IKBKG, MTOR, SOS2

PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU 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, CAMURATI-ENGELMANN DISEASE, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, LEUKEMIA, CHRONIC MYELOID, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, NOONAN SYNDROME 4, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, INCONTINENTIA PIGMENTI, NOONAN SYNDROME 9, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

NRAS, CCND1, NPM1, IKBKG, MTOR, RUNX1, CBL, SERPINE1, SMAD4, PTPN11, BRAF, BCR, SOS1, TGFB1, KRAS, SOS2, MECOM

SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, INCONTINENTIA PIGMENTI, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, OMENN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

CD40LG, DCLRE1C, CCND1, CBL, CIITA, RAG2, STAT1, CD40, ADA, RFX5, RFXANK, RAG1, RFXAP, IKBKG, AIRE

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

FASLG, IL10, HLA-DQA1, HLA-DRB1, CD40, HLA-DQB1, PRF1, CALR, FAS, PTPN11

POLYCYTHEMIA VERA, SOMATIC, QUEBEC PLATELET DISORDER, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ?NEUTROPHILIA, HEREDITARY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, WHIM SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, GLANZMANN THROMBASTHENIA, PLATELET GLYCOPROTEIN IV DEFICIENCY, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 46, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HETEROTOPIA, PERIVENTRICULAR, ACUTE MYELOID LEUKEMIA, M6 TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

CSF3R, ITGB3, IL2RA, CBL, PLAU, CD59, PRF1, GP1BA, CD36, PTPN11, GP1BB, HLA-DRB1, F2, AGT, STAT3, FLT3, ITGA2, ITGA2B, CXCR4, IL10, THPO, JAK2, FASLG, MMP1, CALR, C3, CD3G, TFRC, NHP2, GP9, CD40, CD46, FLNA, KIT, CD81, EPOR

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, SEA-BLUE HISTIOCYTE DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, FANCONI ANEMIA, COMPLEMENTATION GROUP A, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, ANEMIA, SIDEROBLASTIC, 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, BENT BONE DYSPLASIA SYNDROME, ?NEUTROPHILIA, HEREDITARY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, VON WILLIBRAND DISEASE, TYPE 3, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, ERYTHROCYTOSIS, FAMILIAL, 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE IA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, PEUTZ-JEGHERS SYNDROME, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, GLANZMANN THROMBASTHENIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PLATELET GLYCOPROTEIN IV DEFICIENCY, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, POLYCYTHEMIA VERA, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, HYPERPARATHYROIDISM, NEONATAL, WISKOTT-ALDRICH SYNDROME, CAMURATI-ENGELMANN DISEASE, PORENCEPHALY 1, FACTOR XIIIA DEFICIENCY, QUEBEC PLATELET DISORDER, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ACUTE MYELOID LEUKEMIA, M6 TYPE, 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

FGA, CSF3R, ITGB3, KRAS, PRKCD, APOE, PLAU, VWF, SMAD4, CD40, KNG1, FAS, ACTN1, IKBKG, C3, PTPN11, CXCR4, SOS2, STAT1, FTL, F2, CASR, AGT, TGFB1, MTOR, VHL, WAS, NOS3, FLT3, TBXA2R, ITGA2, SOS1, G6PC3, RUNX1, FGFR2, STK11, BRCA1, CCND1, CBL, IL2RA, JAK2, IL10, FASLG, PDGFRA, NRAS, COL4A1, G6PC, MMP1, CALR, CD36, ITGA2B, PRF1, CYCS, HSPA9, EPOR, F13A1, HAMP, STAT3, FLNA, COL7A1, KIT, SERPINE1, HRG, MYD88

MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, WHIM SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, 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

CXCR4, FASLG, IL10, HLA-DQA1, TGFB1, JAK2, HLA-DRB1, STAT1, CD40, HLA-DQB1, STAT3, CD40LG, PRF1, CALR, FAS, CTLA4, PTPN11

REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ANEMIA, SIDEROBLASTIC, 4, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BARTH SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, [AMP DEAMINASE DEFICIENCY, ERYTHROCYTIC], CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, SICKLE CELL ANEMIA, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, ATRANSFERRINEMIA, 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, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, GAUCHER DISEASE, TYPE IIIC, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 9, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLANZMANN THROMBASTHENIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, GM1-GANGLIOSIDOSIS, TYPE II, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, GREENBERG SKELETAL DYSPLASIA, FAVISM, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?THROMBOXANE SYNTHASE DEFICIENCY, PYRUVATE KINASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, DYSKERATOSIS CONGENITA, X-LINKED, GHOSAL HEMATODIAPHYSEAL SYNDROME, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, SEBASTIAN SYNDROME, [BOMBAY PHENOTYPE], PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, GAUCHER DISEASE, TYPE I, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, RETICULAR DYSGENESIS, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, PELGER-HUET ANOMALY, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, 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, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, 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, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], 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, COENZYME Q10 DEFICIENCY, PRIMARY, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, SENGERS SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, GLUTATHIONE SYNTHETASE DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, MAY-HEGGLIN ANOMALY, LESCH-NYHAN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, GM1-GANGLIOSIDOSIS, TYPE III, THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, ANEMIA, SIDEROBLASTIC, 1, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CATARACT 13 WITH ADULT I PHENOTYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ISOVALERIC ACIDEMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, HETEROTOPIA, PERIVENTRICULAR, GAUCHER DISEASE, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, 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

RPL5, FANCM, HLCS, HBB, GPI, APOB, LBR, PGK1, IKBKG, G6PC, ACTN1, DGUOK, MUC1, ALDOA, F2, AGT, PCCB, AK2, STT3B, SMPD1, G6PC3, BAAT, COX6B1, FH, FTCD, AGK, ALG2, GALT, PNPO, CYCS, GFI1B, COX4I2, CYB5R3, PIGM, UMPS, CD81, COX8A, KRAS, FCGR2B, PLAU, CD40, NME1, MPI, HBA1, PIGT, NOS3, CPOX, THPO, CAD, SMAD9, RYR1, AMACR, FUT1, MGAT2, ALAD, JAK2, CALR, CCND1, CD27, SC5D, TALDO1, FANCC, TCIRG1, AK1, HPRT1, TF, RPS10, FANCA, ABCB7, ALG6, COX14, PANK2, STAT3, DPAGT1, BPGM, AKR1D1, PMM2, BMPR2, LARS, PFKM, GLB1, SLC35A2, RPS14, SSR4, MMAB, SMAD4, CYP2C9, VWF, CBS, PEX19, MVK, FUT2, FLNA, TAZ, VHL, BCS1L, BRCA1, ITGB2, AMPD3, TPI1, COQ2, MUT, GCNT2, PHGDH, FECH, UROS, TINF2, HSPA9, HK1, DGKE, GCLC, BRAF, DDOST, ELANE, NHP2, FAH, NRAS, IRF5, TNFSF11, MLF1, PRKCD, DPM1, NPHP1, TGFB1, PTPN11, CXCR4, B4GALT1, MYH9, REN, DKC1, MT-CO2, G6PD, PKLR, PCCA, CYP2A6, FGFR2, ACTN4, HSD3B7, GBA, NEU1, FTH1, PDGFRA, ALPL, NT5C3A, CD36, PNP, DHFR, TBXAS1, FASLG, MTR, PIGA, ADA, IVD, ATR, GSS, ITGB3, MT-CO1, C10orf2, TMEM199, ALAS2, SERPINE1, COX10, ALG13, MTOR

REVESZ SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, MANNOSIDOSIS, ALPHA-, TYPES I AND II, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 23, BENT BONE DYSPLASIA SYNDROME, {THIOPURINES, POOR METABOLISM OF, 1}, SPHEROCYTOSIS, TYPE 4, BARTH SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, COMBINED FACTOR V AND VIII DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, INTERSTITIAL LUNG AND LIVER DISEASE, [AMP DEAMINASE DEFICIENCY, ERYTHROCYTIC], CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, 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, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, SICKLE CELL ANEMIA, FAVISM, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, ANEMIA, SIDEROBLASTIC, 4, 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, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, GAUCHER DISEASE, TYPE IIIC, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLANZMANN THROMBASTHENIA, NORUM DISEASE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, [GLYOXALASE II DEFICIENCY], VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, GREENBERG SKELETAL DYSPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, GALACTOSEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?THROMBOXANE SYNTHASE DEFICIENCY, PYRUVATE KINASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, DYSKERATOSIS CONGENITA, X-LINKED, GHOSAL HEMATODIAPHYSEAL SYNDROME, NEUTROPENIA, CYCLIC, DIAMOND-BLACKFAN ANEMIA 9, PRIMARY PULMONARY HYPERTENSION, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, SEBASTIAN SYNDROME, [BOMBAY PHENOTYPE], PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, GAUCHER DISEASE, TYPE I, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, RETICULAR DYSGENESIS, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, PELGER-HUET ANOMALY, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, OVALOCYTOSIS, SA TYPE, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 15, THROMBOCYTHEMIA 3, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], 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, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, GAUCHER DISEASE, TYPE III, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HEMOCHROMATOSIS, TYPE 4, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, CAMURATI-ENGELMANN DISEASE, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, RENAL TUBULAR ACIDOSIS, DISTAL, AR, CATARACT 13 WITH ADULT I PHENOTYPE, NIEMANN-PICK DISEASE, TYPE B, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], LATHOSTEROLOSIS, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, IMMUNODEFICIENCY 46, TRIMETHYLAMINURIA, COENZYME Q10 DEFICIENCY, PRIMARY, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ASPARTYLGLUCOSAMINURIA, SENGERS SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, GLUTATHIONE SYNTHETASE DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE IA, {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}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, GM1-GANGLIOSIDOSIS, TYPE III, THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, CRYOHYDROCYTOSIS, HAMAMY SYNDROME, ANEMIA, SIDEROBLASTIC, 1, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, ISOVALERIC ACIDEMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, HETEROTOPIA, PERIVENTRICULAR, GAUCHER DISEASE, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, 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

CA2, GPI, LMAN1, HLCS, HBB, EPHX1, IRX5, LARS, FMO3, ACP2, LBR, PGK1, SC5D, IKBKG, G6PC, ACTN1, DGUOK, MUC1, ALDOA, F2, HAGH, AGT, PCCB, SSR4, AK2, SMPD1, STT3B, GGCX, APOB, G6PC3, BAAT, MAN2B1, COX6B1, REN, NF1, FH, FTCD, AGK, ALG2, GALT, PNPO, TFRC, CYCS, GFI1B, COX4I2, CYB5R3, CD40, UMPS, RPS24, CD81, COX8A, SRD5A3, KRAS, IL10, PLAU, PIGM, IRF5, MPI, HBA1, PIGT, NOS3, THRA, THPO, CAD, MYD88, RYR1, AMACR, FUT1, MGAT2, GPX1, CPOX, ALAD, WHSC1L1, CALR, CBL, PRKACG, CCND1, CD27, RPL5, TALDO1, FANCC, PFKM, AK1, SLC4A1, TF, FCGR2B, RPS10, SMAD9, ABCB7, ALG6, COX14, PANK2, MLLT11, DPAGT1, FAH, BPGM, AKR1D1, FANCM, PMM2, BMPR2, CP, TCIRG1, GLB1, DKC1, SLC35A2, RPS14, NRAS, MMAB, SMAD4, CYP2C9, VWF, CBS, CD36, MVK, FUT2, FLNA, TAZ, HPRT1, BRAF, VHL, BCS1L, FOXP3, TBXAS1, BRCA1, ITGB2, UROS, TPI1, COQ2, MUT, GCNT2, PGM3, PEX19, PHGDH, FECH, AMPD3, TINF2, TERT, FANCA, HSPA9, HK1, DGKE, XRCC4, GCLC, NEU1, ACP5, DDOST, ELANE, NHP2, VKORC1, DDX41, NME1, TNFSF11, SLC40A1, MLF1, PRKCD, TPMT, DPM1, NPHP1, TGFB1, PTPN11, CXCR4, B4GALT1, KMT2D, MYH9, NSD1, STAT3, MT-CO2, G6PD, PKLR, PCCA, LCAT, CYP2A6, FGFR2, ACTN4, C10orf2, GBA, MARS, GLA, FTH1, PDGFRA, TMEM199, ALPL, NT5C3A, AGA, PNP, DHFR, F10, FASLG, MTR, PIGA, ADA, IVD, CYP7B1, ATR, GSS, ITGB3, MT-CO1, HSD3B7, JAK2, ALAS2, SERPINE1, COX10, ALG13, MTOR

WHIM SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {CELIAC DISEASE, SUSCEPTIBILITY TO}

CXCR4, IL10, HLA-DQA1, CD40LG, HLA-DRB1, CD40, HLA-DQB1, KNG1, FAS, C3, TGFB1, NOS3

REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ANEMIA, SIDEROBLASTIC, 4, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BARTH SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, [AMP DEAMINASE DEFICIENCY, ERYTHROCYTIC], CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, SICKLE CELL ANEMIA, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, ATRANSFERRINEMIA, 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, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, GAUCHER DISEASE, TYPE IIIC, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 9, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLANZMANN THROMBASTHENIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, GM1-GANGLIOSIDOSIS, TYPE II, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, GREENBERG SKELETAL DYSPLASIA, FAVISM, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?THROMBOXANE SYNTHASE DEFICIENCY, PYRUVATE KINASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, DYSKERATOSIS CONGENITA, X-LINKED, GHOSAL HEMATODIAPHYSEAL SYNDROME, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, SEBASTIAN SYNDROME, [BOMBAY PHENOTYPE], PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, GAUCHER DISEASE, TYPE I, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, RETICULAR DYSGENESIS, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, PELGER-HUET ANOMALY, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, 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, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, 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, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], 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, COENZYME Q10 DEFICIENCY, PRIMARY, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, SENGERS SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, GLUTATHIONE SYNTHETASE DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, MAY-HEGGLIN ANOMALY, LESCH-NYHAN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, GM1-GANGLIOSIDOSIS, TYPE III, THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, ANEMIA, SIDEROBLASTIC, 1, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CATARACT 13 WITH ADULT I PHENOTYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ISOVALERIC ACIDEMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, HETEROTOPIA, PERIVENTRICULAR, GAUCHER DISEASE, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, 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

RPL5, FANCM, HLCS, HBB, GPI, APOB, LBR, PGK1, IKBKG, G6PC, ACTN1, DGUOK, MUC1, ALDOA, F2, AGT, PCCB, AK2, STT3B, SMPD1, G6PC3, BAAT, COX6B1, FH, FTCD, AGK, ALG2, GALT, PNPO, CYCS, GFI1B, COX4I2, CYB5R3, PIGM, UMPS, CD81, COX8A, KRAS, FCGR2B, PLAU, CD40, NME1, MPI, HBA1, PIGT, NOS3, CPOX, THPO, CAD, SMAD9, RYR1, AMACR, FUT1, MGAT2, ALAD, JAK2, CALR, CCND1, CD27, SC5D, TALDO1, FANCC, TCIRG1, AK1, HPRT1, TF, RPS10, FANCA, ABCB7, ALG6, COX14, PANK2, STAT3, DPAGT1, BPGM, AKR1D1, PMM2, BMPR2, LARS, PFKM, GLB1, SLC35A2, RPS14, SSR4, MMAB, SMAD4, CYP2C9, VWF, CBS, PEX19, MVK, FUT2, FLNA, TAZ, VHL, BCS1L, BRCA1, ITGB2, AMPD3, TPI1, COQ2, MUT, GCNT2, PHGDH, FECH, UROS, TINF2, HSPA9, HK1, DGKE, GCLC, BRAF, DDOST, ELANE, NHP2, FAH, NRAS, IRF5, TNFSF11, MLF1, PRKCD, DPM1, NPHP1, TGFB1, PTPN11, CXCR4, B4GALT1, MYH9, REN, DKC1, MT-CO2, G6PD, PKLR, PCCA, CYP2A6, FGFR2, ACTN4, HSD3B7, GBA, NEU1, FTH1, PDGFRA, ALPL, NT5C3A, CD36, PNP, DHFR, TBXAS1, FASLG, MTR, PIGA, ADA, IVD, ATR, GSS, ITGB3, MT-CO1, C10orf2, TMEM199, ALAS2, SERPINE1, COX10, ALG13, MTOR

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, HYPOBETALIPOPROTEINEMIA, TRANSCOBALAMIN II DEFICIENCY, QUEBEC PLATELET DISORDER, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, INTRINSIC FACTOR DEFICIENCY, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, FOLATE MALABSORPTION, HEREDITARY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE

CBL, SLC19A2, GIF, CUBN, APOB, PLAU, SLC46A1, LMBRD1, MMACHC, TCN2

CAMURATI-ENGELMANN DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, ?NEUTROPHILIA, HEREDITARY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, TRANSALDOLASE DEFICIENCY, BENT BONE DYSPLASIA SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, PORENCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ACUTE MYELOID LEUKEMIA, M6 TYPE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, {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, VON WILLEBRAND DISEASE, TYPE 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, BLEEDING DISORDER, PLATELET-TYPE, 17, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, HEREDITARY PYROPOIKILOCYTOSIS, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, WHIM SYNDROME, HYPER-IGD SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PLATELET GLYCOPROTEIN IV DEFICIENCY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ELLIPTOCYTOSIS-2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, HYPERPARATHYROIDISM, NEONATAL, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, BLEEDING DISORDER, PLATELET-TYPE, 11, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), THROMBOCYTHEMIA 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLANZMANN THROMBASTHENIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, ERYTHROCYTOSIS, FAMILIAL, 2, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, LYMPHOPROLIFERATIVE SYNDROME 2, QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, FACTOR XIIIA DEFICIENCY, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, HETEROTOPIA, PERIVENTRICULAR, 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

APOE, C3AR1, F2, APOB, MMP1, GP1BA, FAS, PGK1, CIITA, TBXA2R, RPL5, ALPL, AGT, ITGA2B, SPTA1, FGA, TFRC, CYCS, MPO, PRF1, BLOC1S6, GFI1B, CD40, HLA-DQA1, CD81, RUNX1, IL10, PLAU, NME1, ACTN1, NOS3, GP1BB, THRA, CCND1, MYD88, MTOR, HLA-DRB1, ACVRL1, THPO, BMPR1A, ITGA2, CD27, CBL, MPL, JAK2, STAT1, TALDO1, GP6, C3, GP9, WAS, HRG, BMPR2, GATA1, ITGB3, IL2RA, SSR4, SMAD4, VWF, SMAD9, MVK, CD40LG, TNFSF11, CASR, NUP214, VHL, COL4A1, FOXP3, BRCA1, ITGB2, TPI1, FASLG, FLNA, F13A1, THBD, KIT, BCR, OCLN, CSF3R, SLC2A1, PRKCD, CD59, KNG1, CASP10, CLDN1, PTPN11, CXCR4, FTH1, TGFB1, STAT3, MT-CO2, FLT3, FGFR2, ACTN4, RPL11, PDGFRA, STX11, CALR, CD36, CTLA4, HLA-DQB1, ANK1, EPOR, P2RX1, NHP2, COL7A1, SERPINE1, GATA2

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 6, CATARACT 13 WITH ADULT I PHENOTYPE, DIAMOND-BLACKFAN ANEMIA 6, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], [BOMBAY PHENOTYPE], JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

FASLG, RPL5, KRAS, GCNT2, FUT2, B4GALT1, FUT1, CD81

RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, SEA-BLUE HISTIOCYTE DISEASE, ABETALIPOPROTEINEMIA, SITOSTEROLEMIA, GLYCOGEN STORAGE DISEASE IC, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BLEEDING DISORDER, PLATELET-TYPE, 11, NOONAN SYNDROME 4, BARTTER SYNDROME, TYPE 2, FOLATE MALABSORPTION, HEREDITARY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, ERYTHROCYTOSIS, FAMILIAL, 2, HEMOCHROMATOSIS, TYPE 4, LYSINURIC PROTEIN INTOLERANCE, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE IA, CAMURATI-ENGELMANN DISEASE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, 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, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, PLATELET GLYCOPROTEIN IV DEFICIENCY, NOONAN SYNDROME 9, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, PRIMARY PULMONARY HYPERTENSION, HYPOBETALIPOPROTEINEMIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 2, HYPERPARATHYROIDISM, NEONATAL, INTRINSIC FACTOR DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, WHIM SYNDROME, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, QUEBEC PLATELET DISORDER, ATRANSFERRINEMIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, IMMUNODEFICIENCY 46, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, GLYCOGEN STORAGE DISEASE VII, TRANSCOBALAMIN II DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, HETEROTOPIA, PERIVENTRICULAR, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, ACUTE MYELOID LEUKEMIA, M6 TYPE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, THROMBOCYTHEMIA 3, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

KCNA5, CA2, APOE, TF, ITGB3, GIF, GPI, APOB, PRKCD, SSR4, PLAU, SLC46A1, HK1, CCND1, BAAT, MTTP, KNG1, VHL, HBA1, ABCG5, G6PC, NOS3, CXCR4, SOS2, STAT1, MUC1, FTL, KCNJ1, CASR, AGT, CIITA, RYR1, EPHX1, PRKACG, COL4A1, SLC40A1, PTPN11, SLC11A2, MTOR, ABCG8, SOS1, TCN2, CD27, ELANE, FGA, BMPR2, CBL, F2, ITGA2, KLF1, IL10, KCNN4, JAK2, SLC37A4, EPOR, STX11, PFKM, TGFB1, CD36, MMACHC, FTH1, TFRC, ALPL, SLC19A2, FGG, SLC7A7, SLC2A1, HAMP, GP6, ADA, STAT3, G6PC3, LMBRD1, FLNA, CUBN, SLC4A4, COL7A1

LEUKOCYTE ADHESION DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, {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, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CAMURATI-ENGELMANN DISEASE, RHEUMATOID ARTHRITIS, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

FCGR2B, FCGR2A, IL10, C3AR1, KNG1, CFI, FGG, CFB, RUNX1, HLA-DRB1, CD46, HLA-DQB1, CFH, CALR, HLA-DQA1, ITGB2, C3, TGFB1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, ANEMIA, SIDEROBLASTIC, 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, BLEEDING DISORDER, PLATELET-TYPE, 11, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, INCONTINENTIA PIGMENTI, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, WHIM SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, THROMBOCYTOPENIA 4, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, LEUKOCYTE ADHESION DEFICIENCY, QUEBEC PLATELET DISORDER, FACTOR XIIIA DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, GLYCOGEN STORAGE DISEASE VII, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, THROMBOCYTHEMIA 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

CA2, FASLG, GP6, ALDOA, REN, RPS14, IL10, CASP10, KNG1, FAS, HBA1, IKBKG, CYCS, NOS3, CXCR4, CD40LG, AGT, CIITA, TGFB1, HLA-DRB1, FCGR2A, MT-CO2, TCIRG1, RFX5, RFXANK, ITGB2, RFXAP, KRAS, ELANE, CALR, FGA, FCGR2B, ACTN4, CARD9, PRKCD, JAK2, STAT1, PLAU, PFKM, C3, HLA-DQB1, HSPA9, TF, F13A1, CD40, STAT3, HLA-DQA1, MTOR, MYD88

CAMURATI-ENGELMANN DISEASE, BLEEDING DISORDER, PLATELET-TYPE, 11, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, 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, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, GLANZMANN THROMBASTHENIA, PLATELET GLYCOPROTEIN IV DEFICIENCY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PORENCEPHALY 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SEA-BLUE HISTIOCYTE DISEASE, HETEROTOPIA, PERIVENTRICULAR, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, BLEEDING DISORDER, PLATELET-TYPE, 17, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

GP1BB, APOE, F2, ITGB3, GFI1B, GP9, FLNA, VHL, COL4A1, GP6, VWF, GP1BA, CALR, ITGB2, ITGA2B, TGFB1, CD36, COL7A1, ITGA2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, COPROPORPHYRIA, HARDEROPORPHYRIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, QUEBEC PLATELET DISORDER, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, NIEMANN-PICK DISEASE, TYPE A, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, INCONTINENTIA PIGMENTI, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, 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, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, IMMUNODEFICIENCY, COMMON VARIABLE, 6, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PLATELET GLYCOPROTEIN IV DEFICIENCY, NOONAN SYNDROME 9, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ERYTHROCYTOSIS, FAMILIAL, 2, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, NIEMANN-PICK DISEASE, TYPE B, LEUKOCYTE ADHESION DEFICIENCY, CAMURATI-ENGELMANN DISEASE, PORENCEPHALY 1, SEA-BLUE HISTIOCYTE DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, ATRANSFERRINEMIA, FACTOR XIIIA DEFICIENCY, 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, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], ?GLYCOPROTEIN IA DEFICIENCY, 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, NOONAN SYNDROME 4

GATA1, FASLG, APOE, TF, TNFSF11, HBB, SMPD1, PRKCD, IL10, PLAU, CD46, CD59, PRF1, KNG1, FAS, HBA1, IKBKG, C3, NOS3, CXCR4, CD40LG, ITGB3, REN, AGT, TGFB1, MTOR, HLA-DRB1, VHL, FCGR2A, MT-CO2, ACTN1, ITGA2, CPOX, ITGB2, SOS1, APOB, ELANE, FCGR2B, ACTN4, MMP1, CCND1, F8, CBL, JAK2, STAT1, COL4A1, F2, CALR, HLA-DQA1, CD36, CD3G, CD81, HLA-DQB1, CYCS, KRAS, F13A1, CD40, CIITA, STAT3, MYD88, SOS2, PRKACG, PTPN11, KIT, SERPINE1, COL7A1