HEMATOLOGY

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, {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, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, INCONTINENTIA PIGMENTI, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, HYPERPARATHYROIDISM, NEONATAL, WISKOTT-ALDRICH SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, 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, SEA-BLUE HISTIOCYTE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HETEROTOPIA, PERIVENTRICULAR, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

APOE, FLNA, APOB, RUNX1, PRF1, KNG1, TGFB1, ACTN1, MPO, CD40LG, NLRC4, CIITA, HLA-DRB1, STAT3, FOXP3, PTPN11, IL10, ACTN4, CCND1, STAT1, IKBKG, STX11, CTLA4, TMEM173, FASLG, CASR, GFI1B, CD40, WAS, ACD, MYD88

FACTOR V DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, CAMURATI-ENGELMANN DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LYSINURIC PROTEIN INTOLERANCE, FACTOR XIIIB DEFICIENCY, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, COMBINED FACTOR V AND VIII DEFICIENCY, GLANZMANN THROMBASTHENIA, BENT BONE DYSPLASIA SYNDROME, FECHTNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, SPHEROCYTOSIS, TYPE 1, PORENCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, STORMORKEN SYNDROME, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, FACTOR XII DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, CYANOSIS, TRANSIENT NEONATAL, PEUTZ-JEGHERS SYNDROME, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ATRANSFERRINEMIA, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 1, JUVENILE, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, HETEROTOPIA, PERIVENTRICULAR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HEMOPHILIA B, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, HYPERPARATHYROIDISM, NEONATAL, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?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, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, SCOTT 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, BLEEDING DISORDER, PLATELET-TYPE, 11, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), THROMBOCYTHEMIA 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, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, QUEBEC PLATELET DISORDER, HERMANSKY-PUDLAK SYNDROME 1, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, FACTOR XIIIA DEFICIENCY, GRAY PLATELET SYNDROME, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, SEA-BLUE HISTIOCYTE DISEASE, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY 10, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, BRCA2, F2, HBB, RASGRP2, MMP1, P2RY12, GP1BA, FAS, CIITA, TBXA2R, ANK1, ITGB3, AGT, GGCX, ITGA2B, APOB, FGA, STK11, F8, CD244, LMAN1, PRF1, BLOC1S6, GFI1B, FGG, CD40, PRKACG, F5, KRAS, CBL, PLAU, IRF5, LYST, FGB, NOS3, GP1BB, CCND1, IKBKG, GATA2, GPI, ACVRL1, THPO, SCARB2, ACTN1, ITGA2, IL10, MPL, JAK2, STAT1, GP6, C3, SLC7A7, ITK, WAS, BRAF, F7, SOS2, GATA1, FCGR2A, STIM1, TF, ALDOA, IL2RA, SMAD4, COL4A1, VWF, CD36, HLA-DRB1, CASR, HRG, VHL, HBG2, FOXP3, BRCA1, MTOR, ITGB2, DTNBP1, CFI, PSTPIP1, DGKE, F13A1, THBD, KIT, SH2D1A, VKORC1, NRAS, SH2B3, F9, FLNA, GP9, CD40LG, PRKCD, CD59, KNG1, NPHP1, CLDN1, HBA1, PTPN11, CXCR4, FTH1, KLF1, MYH9, TGFB1, F13B, STAT3, MT-CO2, SOS1, FGFR2, ACTN4, CALR, F12, HPS1, F10, AP3B1, SERPINF2, VPS45, P2RX1, CD46, MYD88, BMPR2, NBEAL2, SERPINE1, ANO6

REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BONE MARROW FAILURE SYNDROME 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, [AMP DEAMINASE DEFICIENCY, ERYTHROCYTIC], MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOPHOSPHATASIA, INFANTILE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, {THIOPURINES, POOR METABOLISM OF, 2}, 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}, SITOSTEROLEMIA, NIEMANN-PICK DISEASE TYPE C1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, INCONTINENTIA PIGMENTI, AICARDI-GOUTIERES SYNDROME 5, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, BLEEDING DISORDER, PLATELET-TYPE, 15, GALACTOSEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PYRUVATE KINASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, SEBASTIAN SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NIEMANN-PICK DISEASE, TYPE A, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLANZMANN THROMBASTHENIA, LESCH-NYHAN SYNDROME, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, AICARDI-GOUTIERES SYNDROME 6, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, BONE MARROW FAILURE SYNDROME 2, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HETEROTOPIA, PERIVENTRICULAR, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

CA2, APOE, BRCA2, APOB, PICALM, ATRX, PGK1, CIITA, ACTN1, RPL5, TUBB1, ALPL, AGT, HPRT1, CYCS, NPC1, GFI1B, GPX1, ADAR, ABCB6, KRAS, PLAU, IRF5, PIGT, NOS3, NUDT15, CBS, CAD, IKBKG, RYR1, GALT, JAK2, CCND1, ABCB7, STAT1, VPS33B, PFKM, ABCG8, SAMHD1, ABCD4, FANCA, WAS, BRAF, MYD88, ITGB3, SMPD1, SSR4, SMAD4, SRP72, HLA-DRB1, CASR, NUP214, VHL, SMARCAL1, KIF1B, ITGB2, AMPD3, FECH, PSTPIP1, NF1, ABCD3, DDOST, BCR, NRAS, NME1, FLNA, PRKCD, ERCC6L2, ABCG5, PTPN11, AP3B1, TGFB1, REN, STAT3, TBCE, PKLR, SOS1, FCGR2B, ACTN4, FANCC, RTEL1, CALR, PEX19, PNP, MYH9, ADA, NHP2, VPS45, ATR, SOS2, TINF2, MTOR

REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HERMANSKY-PUDLAK SYNDROME 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, 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, INCONTINENTIA PIGMENTI, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, MYELOPEROXIDASE DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IVIC SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, NEPHRONOPHTHISIS 1, JUVENILE, EMBERGER SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, BLEEDING DISORDER, PLATELET-TYPE, 15, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, HYPERPARATHYROIDISM, NEONATAL, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, 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, CEROID LIPOFUSCINOSIS, NEURONAL, 3, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HETEROTOPIA, PERIVENTRICULAR, GLANZMANN THROMBASTHENIA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, LEUKEMIA, CHRONIC MYELOID, SOMATIC, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, LEUKOCYTE ADHESION DEFICIENCY, QUEBEC PLATELET DISORDER, FACTOR XIIIA DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HERMANSKY-PUDLAK SYNDROME 7, DIAMOND-BLACKFAN ANEMIA 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

CA2, APOE, F2, APOB, P2RY12, FERMT3, CIITA, BMPR1A, RPL5, AGT, ITGA2B, CLN3, FGA, STK11, SALL4, NEU1, MPO, PRF1, BLOC1S6, GFI1B, FGG, CD40, PRKACG, KRAS, RUNX1, CBL, PLAU, LZTR1, HBA1, PGK1, PKLR, THRA, IKBKG, GATA2, HLA-DRB1, ACTN1, IL10, CCND1, JAK2, STAT1, PFKM, TMEM173, NLRC4, ITK, WAS, BRAF, ACD, MYD88, KCNA5, CALR, ITGB3, REN, KCNN4, SMAD4, FGB, CD40LG, TNFSF11, CASR, FOXP3, FLNA, ITGB2, ELANE, DTNBP1, PSTPIP1, RPS19, NF1, F13A1, ACVRL1, DDOST, BCR, SSR4, SLC2A1, PRKCD, KNG1, NPHP1, TGFB1, PTPN11, CXCR4, B4GALT1, AP3B1, STAT3, MT-CO2, FLT3, NOS3, SOS1, ACTN4, CPOX, STX11, TF, CTLA4, FASLG, MYH9, ADA, OCLN, BMPR2, TINF2, SERPINE1, MTOR

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EMBERGER SYNDROME, HERMANSKY-PUDLAK SYNDROME 9, REVESZ SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, HERMANSKY-PUDLAK SYNDROME 2, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, INCONTINENTIA PIGMENTI, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, WISKOTT-ALDRICH SYNDROME, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MAY-HEGGLIN ANOMALY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SEA-BLUE HISTIOCYTE DISEASE, POLYCYTHEMIA VERA, SOMATIC, IVIC SYNDROME, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, HYPERPARATHYROIDISM, NEONATAL, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, HERMANSKY-PUDLAK SYNDROME 1, FACTOR XIIIA DEFICIENCY, 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, GLYCOGEN STORAGE DISEASE VII, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HETEROTOPIA, PERIVENTRICULAR, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, THROMBOCYTHEMIA 3, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 7, SEBASTIAN SYNDROME

KCNA5, CA2, APOE, PFKM, TNFSF11, ITK, KRAS, PRKCD, IL10, PLAU, RUNX1, KNG1, HBA1, WAS, FGB, TGFB1, PGK1, NOS3, STAT1, ITGA2B, ITGB3, NLRC4, AGT, CIITA, GATA2, ACVRL1, FLT3, CASR, ACTN1, FLNA, ITGB2, SOS1, FGA, CBL, ACTN4, CCND1, DTNBP1, KCNN4, JAK2, SALL4, HLA-DRB1, IKBKG, STX11, CALR, F2, PTPN11, TMEM173, FASLG, BLOC1S6, AP3B1, MYH9, FGG, NF1, SLC2A1, F13A1, FERMT3, CD40, NEU1, STAT3, TINF2, ACD, OCLN, MYD88

WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HEMOPHILIA B, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FACTOR X DEFICIENCY, FACTOR XII DEFICIENCY, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEREDITARY FACTOR VIII DEFICIENCY DISEASE, FACTOR VII DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, VON WILLEBRAND DISEASE, TYPE 1, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), VON WILLIBRAND DISEASE, TYPE 3, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

GP1BB, GP1BA, F2, VWF, GP9, F8, F10, KNG1, F7, F12, F9

FACTOR V DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, CAMURATI-ENGELMANN DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LYSINURIC PROTEIN INTOLERANCE, FACTOR XIIIB DEFICIENCY, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, COMBINED FACTOR V AND VIII DEFICIENCY, GLANZMANN THROMBASTHENIA, BENT BONE DYSPLASIA SYNDROME, FECHTNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, SPHEROCYTOSIS, TYPE 1, PORENCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, STORMORKEN SYNDROME, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, FACTOR XII DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, CYANOSIS, TRANSIENT NEONATAL, PEUTZ-JEGHERS SYNDROME, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ATRANSFERRINEMIA, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 1, JUVENILE, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, HETEROTOPIA, PERIVENTRICULAR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HEMOPHILIA B, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, HYPERPARATHYROIDISM, NEONATAL, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?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, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, SCOTT 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, BLEEDING DISORDER, PLATELET-TYPE, 11, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), THROMBOCYTHEMIA 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, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, QUEBEC PLATELET DISORDER, HERMANSKY-PUDLAK SYNDROME 1, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, FACTOR XIIIA DEFICIENCY, GRAY PLATELET SYNDROME, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, SEA-BLUE HISTIOCYTE DISEASE, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY 10, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, BRCA2, F2, HBB, RASGRP2, MMP1, P2RY12, GP1BA, FAS, CIITA, TBXA2R, ANK1, ITGB3, AGT, GGCX, ITGA2B, APOB, FGA, STK11, F8, CD244, LMAN1, PRF1, BLOC1S6, GFI1B, FGG, CD40, PRKACG, F5, KRAS, CBL, PLAU, IRF5, LYST, FGB, NOS3, GP1BB, CCND1, IKBKG, GATA2, ACVRL1, THPO, SCARB2, ACTN1, ITGA2, IL10, MPL, JAK2, STAT1, GP6, C3, SLC7A7, GP9, WAS, BRAF, F7, SOS2, GATA1, FCGR2A, STIM1, CALR, ALDOA, IL2RA, SMAD4, COL4A1, VWF, CD36, HLA-DRB1, CASR, HRG, VHL, HBG2, FOXP3, MTOR, ITGB2, DTNBP1, CFI, PSTPIP1, DGKE, F13A1, THBD, KIT, SH2D1A, VKORC1, NRAS, SH2B3, F9, FLNA, ITK, CD40LG, PRKCD, CD59, KNG1, NPHP1, CLDN1, HBA1, PTPN11, CXCR4, FTH1, KLF1, MYH9, TGFB1, F13B, STAT3, MT-CO2, SOS1, FGFR2, ACTN4, TF, F12, HPS1, F10, AP3B1, SERPINF2, VPS45, P2RX1, CD46, MYD88, BMPR2, NBEAL2, SERPINE1, ANO6

REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BONE MARROW FAILURE SYNDROME 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, [AMP DEAMINASE DEFICIENCY, ERYTHROCYTIC], MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOPHOSPHATASIA, INFANTILE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, {THIOPURINES, POOR METABOLISM OF, 2}, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SITOSTEROLEMIA, NIEMANN-PICK DISEASE TYPE C1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, GALACTOSEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, SEBASTIAN SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLANZMANN THROMBASTHENIA, LESCH-NYHAN SYNDROME, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THROMBOCYTOPENIA 4, AICARDI-GOUTIERES SYNDROME 5, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, AICARDI-GOUTIERES SYNDROME 6, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), BONE MARROW FAILURE SYNDROME 2, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HETEROTOPIA, PERIVENTRICULAR, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

NF1, CA2, NRAS, ERCC6L2, FECH, PFKM, ITGB3, KRAS, PRKCD, SSR4, CIITA, MTOR, ADAR, ATR, IRF5, BRCA2, PIGT, ABCG5, PEX19, NOS3, HPRT1, RPL5, TUBB1, FLNA, CBS, AP3B1, AGT, IKBKG, TGFB1, HLA-DRB1, VHL, WAS, TBCE, SAMHD1, SMARCAL1, CASR, PGK1, ACTN1, ATRX, GALT, ITGB2, DDOST, AMPD3, NUP214, GFI1B, GPX1, ACTN4, TINF2, CCND1, ABCG8, JAK2, KIF1B, REN, STAT1, VPS33B, RTEL1, ABCB7, FANCC, CALR, CYCS, NME1, PNP, SOS1, NPC1, SRP72, PSTPIP1, ALPL, ABCD4, MYH9, FANCA, ADA, NUDT15, NHP2, VPS45, SMAD4, ABCD3, ABCB6, CAD, STAT3, MYD88, BRAF, PTPN11, BCR, RYR1, SOS2

REVESZ SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BONE MARROW FAILURE SYNDROME 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, [AMP DEAMINASE DEFICIENCY, ERYTHROCYTIC], POLYARTERITIS NODOSA, CHILDHOOD-ONSET, FECHTNER SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, {THIOPURINES, POOR METABOLISM OF, 2}, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SITOSTEROLEMIA, NIEMANN-PICK DISEASE TYPE C1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, SEBASTIAN SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, BLEEDING DISORDER, PLATELET-TYPE, 17, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLANZMANN THROMBASTHENIA, LESCH-NYHAN SYNDROME, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THROMBOCYTOPENIA 4, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, AICARDI-GOUTIERES SYNDROME 6, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), BONE MARROW FAILURE SYNDROME 2, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HETEROTOPIA, PERIVENTRICULAR, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

CA2, NRAS, ERCC6L2, BRCA2, PFKM, FLNA, ABCG5, CECR1, KRAS, PRKCD, SSR4, ADAR, IRF5, NME1, PGK1, IKBKG, PEX19, NOS3, STAT1, FECH, TUBB1, ITGB3, AP3B1, NUDT15, AGT, CIITA, NUP214, HLA-DRB1, VHL, WAS, TBCE, SMARCAL1, CASR, ADA, ACTN1, ATRX, MTOR, ITGB2, SOS1, HPRT1, PIGT, ACTN4, BRAF, CCND1, ABCG8, JAK2, GFI1B, REN, RPL5, VPS33B, RTEL1, FANCA, ABCB7, FANCC, NT5C3A, CBS, CYCS, KIF1B, PNP, AMPD3, NPC1, SRP72, PSTPIP1, ALPL, ABCD4, MYH9, HOXA11, CALR, ATR, NHP2, VPS45, SMAD4, ABCD3, ABCB6, MYD88, CAD, STAT3, DDOST, TINF2, BCR, NF1, SOS2

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, INCONTINENTIA PIGMENTI, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, 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, DIAMOND-BLACKFAN ANEMIA 6, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HYPOBETALIPOPROTEINEMIA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CAMURATI-ENGELMANN DISEASE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, HYPERPARATHYROIDISM, NEONATAL, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, SEA-BLUE HISTIOCYTE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HETEROTOPIA, PERIVENTRICULAR, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17

GATA1, APOE, RPL5, FLNA, APOB, CIITA, SMAD4, KNG1, IKBKG, NOS3, CD40LG, CCND1, CASR, MYD88, TGFB1, HLA-DRB1, FOXP3, PTPN11, ELANE, IL10, CARD9, JAK2, STAT1, CTLA4, TMEM173, GFI1B, CD40, STAT3, SERPINE1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, RETICULAR DYSGENESIS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, OROTIC ACIDURIA, SITOSTEROLEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, CAMURATI-ENGELMANN DISEASE, ANEMIA, SIDEROBLASTIC, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, LESCH-NYHAN SYNDROME, NIEMANN-PICK DISEASE TYPE C1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, SECKEL SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, HYPOPHOSPHATASIA, INFANTILE, COMBINED FACTOR V AND VIII DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, [AMP DEAMINASE DEFICIENCY, ERYTHROCYTIC], LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 15, FECHTNER SYNDROME, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, SEBASTIAN SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), BONE MARROW FAILURE SYNDROME 2, PYRUVATE KINASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, EPSTEIN SYNDROME, GLYCOGEN STORAGE DISEASE XII, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, GLYCOGEN STORAGE DISEASE VII, FACTOR V DEFICIENCY, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ACUTE MYELOID LEUKEMIA, M6 TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOREOACANTHOCYTOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP C

ERCC6L2, BRCA2, FECH, ALDOA, HPRT1, PRKCD, VPS13A, BCS1L, ATRX, PGK1, TGFB1, CYCS, PKLR, RPL5, ALPL, MYH9, ABCG5, CAD, ABCB6, NUP214, UMPS, MT-CO2, AK2, SMARCAL1, NOS3, BRCA1, ABCG8, AMPD3, GFI1B, CALR, ACTN4, CCND1, ABCB7, KIF1B, STAT1, FANCC, RTEL1, EPOR, SLC25A13, PFKM, AK1, PEX19, ACTN1, NPC1, PSTPIP1, ABCD4, FANCA, HSPA9, ADA, ATR, NHP2, LMAN1, ABCD3, STAT3, DDOST, F5, NF1, MT-CO1

CAMURATI-ENGELMANN DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, ANEMIA, SIDEROBLASTIC, 4, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, ?NEUTROPHILIA, HEREDITARY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, 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, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, ACUTE MYELOID LEUKEMIA, M6 TYPE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, NIEMANN-PICK DISEASE TYPE C1, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, INCONTINENTIA PIGMENTI, HYPOBETALIPOPROTEINEMIA, 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, HEMOCHROMATOSIS, TYPE 2B, PYRUVATE KINASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MYELOPEROXIDASE DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 17, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, NIEMANN-PICK DISEASE, TYPE C2, 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, NOONAN SYNDROME 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, 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, LYMPHOPROLIFERATIVE SYNDROME 1, 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, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, 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, KENNY-CAFFEY SYNDROME, TYPE 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLANZMANN THROMBASTHENIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, FACTOR XIIIA DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHEDIAK-HIGASHI SYNDROME, HETEROTOPIA, PERIVENTRICULAR, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, SMITH-KINGSMORE SYNDROME

APOE, F2, HBB, APOB, MMP1, F8, IFIH1, FAS, PGK1, CIITA, TBXA2R, RPL5, ALDOA, AGT, SSR4, FAM111A, ITGA2B, FGA, TFRC, NEU1, CYCS, MPO, NPC1, PRF1, GFI1B, GPX1, ADAR, CD40, KRAS, RUNX1, IL10, PLAU, LZTR1, GCLC, IRF5, LYST, PKLR, CCND1, IKBKG, MTOR, HLA-DRB1, NPC2, NOS3, ACTN1, ITGA2, CBL, CARD9, JAK2, MUC1, PFKM, C3, SAMHD1, TMEM173, NLRC4, FANCA, ITK, WAS, CFB, MYD88, GATA1, CALR, ITGB3, REN, IL2RA, DDX41, SMAD4, STAT1, FLNA, CASR, HRG, FOXP3, TPI1, CYP2C9, HSPA9, F13A1, HAMP, THBD, ACP5, ELANE, NFKBIL1, BCR, OCLN, CSF3R, TNFSF11, PRKCD, CD59, KNG1, TGFB1, PTPN11, CXCR4, TNFAIP3, STAT3, MT-CO2, RFXANK, RPL11, B4GALT1, ALPL, TF, CD36, FTH1, FASLG, EPOR, NHP2, C10orf2, SERPINE1, GATA2

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

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

?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEREDITARY PYROPOIKILOCYTOSIS, EMBERGER SYNDROME, REVESZ SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, IMMUNODEFICIENCY 21, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, FUMARASE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, NIJMEGEN BREAKAGE SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, BARTTER SYNDROME, TYPE 2, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, SECKEL SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, ERYTHROCYTOSIS, FAMILIAL, 2, WHIM SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, PEUTZ-JEGHERS SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, DIAMOND-BLACKFAN ANEMIA 6, DYSKERATOSIS CONGENITA, X-LINKED, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ATRANSFERRINEMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, OMENN SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, CAMURATI-ENGELMANN DISEASE, RHEUMATOID ARTHRITIS, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CATARACT 13 WITH ADULT I PHENOTYPE, HYPERPARATHYROIDISM, NEONATAL, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], MEDULLARY CYSTIC KIDNEY DISEASE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, GLYCOGEN STORAGE DISEASE VII, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPHEROCYTOSIS, TYPE 2, SMITH-KINGSMORE SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

GATA1, FASLG, SSR4, RPL5, TF, TNFSF11, DKC1, APOB, GCNT2, MMP1, CD40, KNG1, TGFB1, NOS3, CXCR4, THRA, MUC1, DCLRE1C, ALDOA, CASR, AGT, RYR1, HLA-DRB1, VHL, SPTB, ACTN1, ITGA2, MTOR, KRAS, CTC1, CCND1, STK11, BRCA1, KCNJ1, RUNX1, ACP5, FH, RTEL1, PFKM, GATA2, C3, NBN, TERT, FANCA, NHP2, SLC2A1, ATR, STAT3, TINF2, ACD, CUBN, ERCC4

REVESZ SYNDROME, FACTOR V DEFICIENCY, CAMURATI-ENGELMANN DISEASE, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BONE MARROW FAILURE SYNDROME 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, COMBINED FACTOR V AND VIII DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, [AMP DEAMINASE DEFICIENCY, ERYTHROCYTIC], MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOPHOSPHATASIA, INFANTILE, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ACUTE MYELOID LEUKEMIA, M6 TYPE, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, {THIOPURINES, POOR METABOLISM OF, 2}, CHOREOACANTHOCYTOSIS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SITOSTEROLEMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, NIEMANN-PICK DISEASE TYPE C1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, BLEEDING DISORDER, PLATELET-TYPE, 15, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PYRUVATE KINASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, SEBASTIAN SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, BLEEDING DISORDER, PLATELET-TYPE, 17, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, RETICULAR DYSGENESIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLANZMANN THROMBASTHENIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THROMBOCYTOPENIA 4, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, AICARDI-GOUTIERES SYNDROME 6, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), BONE MARROW FAILURE SYNDROME 2, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HETEROTOPIA, PERIVENTRICULAR, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

CA2, BRCA2, MT-CO1, TBCE, ATRX, PGK1, CIITA, ACTN1, RPL5, TUBB1, ALDOA, AGT, AK2, LMAN1, CYCS, NPC1, GFI1B, ADAR, CD40, ABCB6, F5, KRAS, IRF5, PIGT, PKLR, NUDT15, CAD, IKBKG, MTOR, ABCB7, CCND1, JAK2, STAT1, VPS33B, SLC25A13, PFKM, ABCG8, ABCD4, FANCA, WAS, BRAF, MYD88, ITGB3, REN, SSR4, SMAD4, CBS, SRP72, HLA-DRB1, CASR, NUP214, VHL, SMARCAL1, BCS1L, KIF1B, ITGB2, AMPD3, FECH, PSTPIP1, HSPA9, NF1, ABCD3, DDOST, BCR, NHP2, NRAS, NME1, FLNA, PRKCD, VPS13A, ERCC6L2, ABCG5, AP3B1, TGFB1, STAT3, MT-CO2, NOS3, SOS1, ACTN4, FANCC, RTEL1, ALPL, CALR, PEX19, MYH9, EPOR, VPS45, ATR, SOS2, TINF2, AK1

CAMURATI-ENGELMANN DISEASE, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, DIAMOND-BLACKFAN ANEMIA 5, SPHEROCYTOSIS, TYPE 4, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, BONE MARROW FAILURE SYNDROME 1, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, COMBINED FACTOR V AND VIII DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, FECHTNER SYNDROME, DIAMOND-BLACKFAN ANEMIA 3, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HERMANSKY-PUDLAK SYNDROME 1, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DIAMOND-BLACKFAN ANEMIA 9, CHOREOACANTHOCYTOSIS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, DIAMOND-BLACKFAN ANEMIA 8, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DYSKERATOSIS CONGENITA, X-LINKED, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, 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, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 10, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, FUMARASE DEFICIENCY, OVALOCYTOSIS, SA TYPE, THROMBOCYTHEMIA 3, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 3B, WHIM SYNDROME, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, CRYOHYDROCYTOSIS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?DIAMOND-BLACKFAN ANEMIA 12, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPSTEIN SYNDROME, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, HETEROTOPIA, PERIVENTRICULAR, THROMBOCYTOPENIA 4, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DIAMOND-BLACKFAN ANEMIA 7, FACTOR XIIIA DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CHEDIAK-HIGASHI SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, HERMANSKY-PUDLAK SYNDROME 7

LMAN1, RPS26, APOB, PICALM, DNAJC19, F8, PGK1, TBXA2R, RPL5, ALPL, AGT, SLC35A2, STK11, FH, RPL15, TRNT1, CYCS, COG6, BLOC1S6, HSPA9, SMAD4, CD40, RPS24, AMN, RUNX1, CBL, IRF5, LYST, NOS3, NPM1, SCARB2, ACTN1, RPS29, IL10, JAK2, ANK1, VPS33B, RPS17, SLC4A1, RPS10, VIPAS39, WAS, SEC23B, RPL26, GATA1, ALDOA, DKC1, REN, RPS14, ADAR, RPS28, SRP72, STAT1, FLNA, CASR, NUP214, DTNBP1, RBM8A, COG4, PSTPIP1, RPS19, RPS7, F13A1, ABCD3, DDOST, SSR4, NME1, TNFSF11, VPS13A, KNG1, TGFB1, PTPN11, PEX12, FTH1, MYH9, STAT3, MT-CO2, RPL35A, CXCR4, ACTN4, RPL11, STX11, CALR, PEX19, FASLG, AP3B1, NHP2, VPS45, SPTB, C10orf2, SERPINE1, RYR1

{HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, SEA-BLUE HISTIOCYTE DISEASE, CAMURATI-ENGELMANN DISEASE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, GLANZMANN THROMBASTHENIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, QUEBEC PLATELET DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}

FGA, APOE, ITGB3, F2, AGT, PRKCD, HRG, IL2RA, PLAU, THBD, PDGFRA, FLNA, TGFB1, NOS3

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 21, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPOBETALIPOPROTEINEMIA, CAMURATI-ENGELMANN DISEASE, WISKOTT-ALDRICH SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SEA-BLUE HISTIOCYTE DISEASE, FACTOR X DEFICIENCY, FACTOR VII DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

FASLG, BAAT, PRKACG, CCND1, CAD, WAS, APOB, CD40LG, SMAD4, APOE, STAT3, CEBPA, F7, PTPN11, F10, SERPINE1, TGFB1, GATA2, NOS3

REVESZ SYNDROME, FACTOR V DEFICIENCY, CAMURATI-ENGELMANN DISEASE, ANEMIA, SIDEROBLASTIC, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, 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, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OMENN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ACUTE MYELOID LEUKEMIA, M6 TYPE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, NIEMANN-PICK DISEASE TYPE C1, BENT BONE DYSPLASIA SYNDROME, INCONTINENTIA PIGMENTI, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, PEUTZ-JEGHERS SYNDROME, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], MYELOPEROXIDASE DEFICIENCY, IVIC SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 1, JUVENILE, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, THROMBOCYTHEMIA 3, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, BLEEDING DISORDER, PLATELET-TYPE, 11, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, GLANZMANN THROMBASTHENIA, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, QUEBEC PLATELET DISORDER, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, HETEROTOPIA, PERIVENTRICULAR, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

APOE, BRCA2, F2, CLN3, MMP1, RAG1, FAS, PGK1, CIITA, TBXA2R, MUC1, ITGB3, AGT, APOB, FGA, STK11, SALL4, CYCS, MPO, NPC1, PRF1, FGG, GPX1, ADAR, CD40, FANCD2, F5, F13A1, KRAS, RUNX1, CBL, PLAU, LZTR1, NME1, HBA1, FERMT3, NOS3, CPOX, IKBKG, MTOR, HLA-DRB1, GPI, BMPR1A, ITGA2, JAK2, MECOM, IL10, PSMB8, CCND1, CD27, STAT1, VPS33B, GP6, ALPL, NLRC4, FANCA, WAS, BRAF, MYD88, GATA1, CP, CALR, ALDOA, REN, RPS14, NRAS, SMAD4, FGB, CD40LG, FLNA, CASR, VHL, BCS1L, BRCA1, ITGB2, ELANE, KLF1, PSTPIP1, HSPA9, NF1, XRCC4, GCLC, ACVRL1, DDOST, KIT, EPOR, CSF3R, IRF5, SLC2A1, SLC40A1, PRKCD, CD59, KNG1, NPHP1, TGFB1, PTPN11, CXCR4, TNFAIP3, KMT2D, STAT3, MT-CO2, FLT3, RFXANK, FGFR2, ACTN4, TINF2, NPM1, THRA, STX11, TF, CD36, ACTN1, SERPINE1, FASLG, ADA, OCLN, BMPR2, C10orf2, DHFR, GATA2

{BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?THROMBOXANE SYNTHASE DEFICIENCY, SICKLE CELL ANEMIA, DIAMOND-BLACKFAN ANEMIA 6, HYPERPARATHYROIDISM, NEONATAL, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, PRIMARY PULMONARY HYPERTENSION, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, GHOSAL HEMATODIAPHYSEAL SYNDROME

FGA, BMPR2, RPL5, KNG1, F2, AGT, FGG, TBXA2R, REN, P2RX1, HBB, CASR, ACTN1, CALR, NOS3, FGB, HBA1, TBXAS1, KCNA5

TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {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, NORUM DISEASE, CAMURATI-ENGELMANN DISEASE, SENGERS SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARTH SYNDROME, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, WHIM SYNDROME, GLYCOGEN STORAGE DISEASE IA, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ABETALIPOPROTEINEMIA, PYRUVATE KINASE DEFICIENCY, CHANARIN-DORFMAN SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, ATRANSFERRINEMIA, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, YUNIS-VARON SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, GLYCOGEN STORAGE DISEASE VII, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, HETEROTOPIA, PERIVENTRICULAR, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, SMITH-KINGSMORE SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

PFKM, APOE, AGK, FLNA, KRAS, PRKCD, CBL, PLAU, MTRR, CD59, PIGM, DPM1, PIGT, TGFB1, PEX19, PKLR, CXCR4, SOS2, TAZ, RYR1, CD46, BCS1L, NOS3, BRCA1, SOS1, APOB, FCGR2B, RUNX1, LCAT, SSR4, KIT, G6PC, FANCM, C3, ACTN1, PTPN11, GFI1B, PIGA, TF, GPX1, SLC22A4, MTTP, STAT3, DDOST, FIG4, PRKACG, ABHD5, CD81, MTOR, FAH

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AR, HEREDITARY PYROPOIKILOCYTOSIS, CRYOHYDROCYTOSIS, ELLIPTOCYTOSIS-2, COPROPORPHYRIA, HARDEROPORPHYRIA, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, SPHEROCYTOSIS, TYPE 2, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, SPHEROCYTOSIS, TYPE 3, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, OVALOCYTOSIS, SA TYPE, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, SPHEROCYTOSIS, TYPE 1, NOONAN SYNDROME 4, ANEMIA, SIDEROBLASTIC, 4, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, SPHEROCYTOSIS, TYPE 4, ANEMIA, SIDEROBLASTIC, 1, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1

CPOX, FECH, SLC25A38, HSPA9, SLC4A1, SPTA1, ANK1, MT-CO2, SPTB, SLC11A2, ALAD, ALAS2, SOS1, ABCB6, UROS, COX10

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

AMN, CBL, GIF, ABCD3, CUBN, TCN2

REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, ?NEUTROPHILIA, HEREDITARY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NIJMEGEN BREAKAGE SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, AICARDI-GOUTIERES SYNDROME 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, STORMORKEN SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, ACUTE MYELOID LEUKEMIA, M6 TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, BENT BONE DYSPLASIA SYNDROME, INCONTINENTIA PIGMENTI, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, DIAMOND-BLACKFAN ANEMIA 8, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ATRANSFERRINEMIA, NOONAN SYNDROME 9, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, 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, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, BLEEDING DISORDER, PLATELET-TYPE, 17, IVIC SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, HETEROTOPIA, PERIVENTRICULAR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, WHIM SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, PLATELET GLYCOPROTEIN IV DEFICIENCY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, CATARACT 13 WITH ADULT I PHENOTYPE, HYPERPARATHYROIDISM, NEONATAL, IMMUNODEFICIENCY, COMMON VARIABLE, 13, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, 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}, 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, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THROMBOCYTOPENIA 4, AICARDI-GOUTIERES SYNDROME 6, LYMPHOPROLIFERATIVE SYNDROME 2, QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, FACTOR XIIIA DEFICIENCY, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HERMANSKY-PUDLAK SYNDROME 7, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, IMMUNODEFICIENCY 10, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

APOE, F2, MMP1, TBCE, IFIH1, FAS, FERMT3, IKBKG, BMPR1A, RPL5, ALPL, AGT, NBN, SSR4, ITGA2B, FGA, IKZF1, STK11, ENG, SALL4, TFRC, CYCS, MPO, PRF1, RPS19, GFI1B, FGG, ADAR, CD40, PRKACG, CD81, NF1, KRAS, RUNX1, IL10, PLAU, LZTR1, IRF5, ETV6, NOS3, THRA, CCND1, CAD, MYD88, MTOR, HLA-DRB1, THPO, SCARB2, ACTN1, ITGA2, CD27, CBL, CARD9, JAK2, MUC1, GP6, C3, HOXA11, STX11, WAS, SEC23B, ACD, SOS2, GATA1, LARS, STIM1, PFKM, ITGB3, REN, RPS14, NRAS, SMAD4, FGB, SMAD9, CD40LG, FLNA, CASR, VHL, FOXP3, BRCA1, ITGB2, ELANE, DTNBP1, GCNT2, EPOR, HSPA9, RPS7, F13A1, HAMP, BRAF, ACVRL1, KIT, BCR, SERPINF2, CSF3R, TNFSF11, PRKCD, KNG1, TGFB1, PTPN11, CXCR4, MYH9, STAT1, STAT3, MT-CO2, FLT3, PICALM, SOS1, FGFR2, TINF2, RPL11, PDGFRA, LAMTOR2, TF, CD36, FASLG, CALR, OCLN, NHP2, CD46, BMPR2, C10orf2, SERPINE1, NPM1

REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, ANEMIA, SIDEROBLASTIC, 4, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, ?NEUTROPHILIA, HEREDITARY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, FANCONI ANEMIA, COMPLEMENTATION GROUP P, 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, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, ACUTE MYELOID LEUKEMIA, M6 TYPE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, NIEMANN-PICK DISEASE TYPE C1, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, INCONTINENTIA PIGMENTI, HYPOBETALIPOPROTEINEMIA, 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, HEMOCHROMATOSIS, TYPE 2B, PYRUVATE KINASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MYELOPEROXIDASE DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 17, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, NIEMANN-PICK DISEASE, TYPE C2, 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, NOONAN SYNDROME 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, 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, LYMPHOPROLIFERATIVE SYNDROME 1, 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, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 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, KENNY-CAFFEY SYNDROME, TYPE 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLANZMANN THROMBASTHENIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, FACTOR XIIIA DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHEDIAK-HIGASHI SYNDROME, HETEROTOPIA, PERIVENTRICULAR, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

APOE, F2, HBB, APOB, MMP1, F8, IFIH1, FAS, PGK1, CIITA, TBXA2R, RPL5, ALDOA, AGT, SSR4, FAM111A, ITGA2B, FGA, TFRC, NEU1, CYCS, MPO, NPC1, PRF1, GFI1B, GPX1, ADAR, CD40, KRAS, RUNX1, IL10, PLAU, LZTR1, GCLC, IRF5, LYST, PKLR, CARD9, IKBKG, MTOR, HLA-DRB1, NPC2, NOS3, ACTN1, ITGA2, CBL, CCND1, JAK2, MUC1, PFKM, C3, SAMHD1, TMEM173, NLRC4, FANCA, ITK, WAS, CFB, MYD88, GATA1, TF, ITGB3, REN, IL2RA, CSF3R, SMAD4, STAT1, FLNA, CASR, HRG, FOXP3, TPI1, CYP2C9, PSTPIP1, HSPA9, F13A1, HAMP, THBD, ACP5, ELANE, NFKBIL1, BCR, OCLN, DDX41, TNFSF11, PRKCD, CD59, KNG1, TGFB1, PTPN11, CXCR4, TNFAIP3, STAT3, MT-CO2, RFXANK, TINF2, RPL11, B4GALT1, ALPL, SLX4, CD36, FTH1, FASLG, CALR, EPOR, NHP2, C10orf2, SERPINE1, GATA2

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

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

?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEREDITARY PYROPOIKILOCYTOSIS, EMBERGER SYNDROME, SHWACHMAN-DIAMOND SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, REVESZ SYNDROME, FACTOR V DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP A, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPHEROCYTOSIS, TYPE 3, BENT BONE DYSPLASIA SYNDROME, THROMBOCYTHEMIA 3, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROCYTOSIS, FAMILIAL, 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, CEROID LIPOFUSCINOSIS, NEURONAL, 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, DYSKERATOSIS CONGENITA, X-LINKED, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, NEPHRONOPHTHISIS 11, CAMURATI-ENGELMANN DISEASE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, METHYLMALONIC ACIDURIA, MUT(0) TYPE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PYRUVATE KINASE DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 17, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, ACUTE MYELOID LEUKEMIA, M6 TYPE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SMITH-KINGSMORE SYNDROME, NOONAN SYNDROME 4

GATA1, F5, F2, DKC1, CLN3, PRKCD, CBL, SMAD4, SBDS, NME1, ACTN1, TGFB1, PKLR, STAT1, FTL, CCND1, AGT, NPM1, VHL, STAT3, FOXP3, NOS3, BRCA1, MTOR, KRAS, SPTA1, FGFR2, GPX1, MUT, RUNX1, JAK2, THRA, FECH, GATA2, SOS1, TMEM67, TERT, GFI1B, EPOR, XRCC4, SPTB, TINF2, ACD, ERCC4

?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, REVESZ SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, INCONTINENTIA PIGMENTI, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SECKEL SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, FACTOR V DEFICIENCY, DYSKERATOSIS CONGENITA, X-LINKED, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, NIJMEGEN BREAKAGE SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, FACTOR XIIIA DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ACUTE MYELOID LEUKEMIA, M6 TYPE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3

BRCA2, F5, RUNX1, SMAD4, ATRX, FAS, IKBKG, ACTN1, KNG1, AGT, TGFB1, DKC1, WRAP53, NOS3, BRCA1, SOS1, CTC1, ACTN4, CCND1, PDGFRA, CALR, NBN, TERT, EPOR, F13A1, ATR, ACVRL1, TINF2, ACD, CDAN1

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, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, THROMBOCYTHEMIA 3, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, INCONTINENTIA PIGMENTI, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, POLYCYTHEMIA VERA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

FGA, TNFAIP3, CALR, CCND1, FGG, IKBKG, GPX1, NF1, FGB, SMAD4, BRCA1, SERPINE1, TGFB1, JAK2, NOS3

REVESZ SYNDROME, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CAMURATI-ENGELMANN DISEASE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, COMBINED FACTOR V AND VIII DEFICIENCY, INTERSTITIAL LUNG AND LIVER DISEASE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ACUTE MYELOID LEUKEMIA, M6 TYPE, GAUCHER DISEASE, TYPE IIIC, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, BENT BONE DYSPLASIA SYNDROME, INCONTINENTIA PIGMENTI, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, CYANOSIS, TRANSIENT NEONATAL, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, YUNIS-VARON SYNDROME, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HARP SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, CHOREOACANTHOCYTOSIS, GAUCHER DISEASE, TYPE I, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, EMBERGER SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, PELGER-HUET ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 3, NIEMANN-PICK DISEASE, TYPE A, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, WHIM SYNDROME, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, 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 GLUTATHIONE PEROXIDASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, LATHOSTEROLOSIS, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, COENZYME Q10 DEFICIENCY, PRIMARY, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, BLEEDING DISORDER, PLATELET-TYPE, 11, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, GLANZMANN THROMBASTHENIA, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], LEUKEMIA, CHRONIC MYELOID, SOMATIC, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AICARDI-GOUTIERES SYNDROME 6, NEPHRONOPHTHISIS 11, LYMPHOPROLIFERATIVE SYNDROME 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, QUEBEC PLATELET DISORDER, FACTOR XIIIA DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHEDIAK-HIGASHI SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, HETEROTOPIA, PERIVENTRICULAR, GAUCHER DISEASE, TYPE II, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

KCNA5, APOE, F2, TREX1, APOB, MMP1, LBR, PIGT, IKBKG, ACTN1, RPL5, FTL, ALDOA, AGT, SMPD1, FGA, STK11, EGLN1, TFRC, LMAN1, CYCS, PRF1, BLOC1S6, GFI1B, GPX1, SMAD4, CD40, CYB5R3, FIG4, KRAS, RUNX1, IL10, CIITA, FAS, CYP7B1, NME1, LYST, PKLR, THRA, SMAD9, GATA2, HLA-DRB1, TBXA2R, ITGA2, CPOX, JAK2, MECOM, CBL, PSMB8, CCND1, CD27, CD40LG, GP6, UMOD, STEAP3, TMEM173, ALPL, NLRC4, PANK2, STAT3, MYD88, GATA1, LARS, CALR, ITGB3, REN, IL2RA, SSR4, ADAR, CBS, SC5D, FLNA, CASR, HRG, VHL, HBG2, TNFAIP3, KIF1B, FOXP3, BRCA1, ITGB2, PLEC, ELANE, COQ2, DTNBP1, BMPR1A, TMEM67, VPS13A, PSTPIP1, HK1, NF1, F13A1, DDOST, KIT, BCR, OCLN, DDX41, IRF5, TNFSF11, PRKCD, TGM6, KNG1, CASP10, TGFB1, HBA1, PTPN11, CXCR4, B4GALT1, MUC1, DNASE1, AP3B1, STAT1, WAS, MT-CO2, NOS3, SOS1, FGFR2, ACTN4, TINF2, NPM1, GBA, MARS, FTH1, PDGFRA, STX11, TF, MTRR, F10, FASLG, ADA, EPOR, CLN3, BMPR2, C10orf2, SERPINE1, MTOR, PLAU

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

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

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1

COX14, SCO1, BCS1L, MT-CO2, COX10, MT-CO1

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, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ANEMIA, SIDEROBLASTIC, 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], VON WILLEBRAND DISEASE, TYPE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, VON WILLIBRAND DISEASE, TYPE 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, HYPERPARATHYROIDISM, NEONATAL, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, WISKOTT-ALDRICH SYNDROME, SICKLE CELL ANEMIA, SPHEROCYTOSIS, TYPE 1, CAMURATI-ENGELMANN DISEASE, ERYTHROCYTOSIS, FAMILIAL, 3, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, MYELOPEROXIDASE DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, HETEROTOPIA, PERIVENTRICULAR, ACUTE MYELOID LEUKEMIA, M6 TYPE, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, F2, HBB, APOB, PRKCD, CP, VWF, SMAD4, KNG1, FAS, HBA1, TGFB1, FLNA, NOS3, STAT1, CCND1, CASR, AGT, NPM1, F8, BMPR1A, ITGA2, ELANE, EGLN1, RUNX1, TNFAIP3, FANCC, PTPN11, CYCS, ACTN1, MPO, ANK1, HSPA9, ADA, EPOR, WAS, GPX1, BMPR2

{BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, FANCONI ANEMIA, COMPLEMENTATION GROUP A, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, ANEMIA, SIDEROBLASTIC, 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, BLEEDING DISORDER, PLATELET-TYPE, 11, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ERYTHROCYTOSIS, FAMILIAL, 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?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, GLANZMANN THROMBASTHENIA, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, THROMBOCYTOPENIA 4, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, WISKOTT-ALDRICH SYNDROME, HYPERPARATHYROIDISM, NEONATAL, CAMURATI-ENGELMANN DISEASE, ERYTHROCYTOSIS, FAMILIAL, 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FACTOR XIIIA DEFICIENCY, QUEBEC PLATELET DISORDER, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, NETHERTON SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, THROMBOCYTHEMIA 3, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

GATA1, C3AR1, KNG1, ITGB3, KRAS, SPINK5, PLAU, SMAD4, CD40, CBFB, FAS, TGFB1, C3, NOS3, CXCR4, STAT1, CCND1, CASR, AGT, SMAD9, GATA2, VHL, ACVRL1, TNFAIP3, FOXP3, TBXA2R, ITGA2, TPI1, FGA, CBL, ACTN4, BRCA1, EGLN1, WAS, JAK2, FTH1, RUNX1, F2, GP6, CBS, CYCS, PTPN11, FASLG, HSPA9, CALR, NF1, F13A1, MMP1, HAMP, STAT3, ELANE, IL2RA, FLNA, SERPINE1, HRG

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, REVESZ SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, FANCONI ANEMIA, COMPLEMENTATION GROUP A, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, FUMARASE DEFICIENCY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, THROMBOCYTHEMIA 3, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, INCONTINENTIA PIGMENTI, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SEA-BLUE HISTIOCYTE DISEASE, POLYCYTHEMIA VERA, SOMATIC, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HETEROTOPIA, PERIVENTRICULAR, GLANZMANN THROMBASTHENIA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, LEUKEMIA, CHRONIC MYELOID, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CAMURATI-ENGELMANN DISEASE, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, LYMPHOPROLIFERATIVE SYNDROME 2, HYPERPARATHYROIDISM, NEONATAL, WISKOTT-ALDRICH SYNDROME, QUEBEC PLATELET DISORDER, FACTOR XIIIA DEFICIENCY, 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, HERMANSKY-PUDLAK SYNDROME 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NEUTROPENIA, CYCLIC, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DIAMOND-BLACKFAN ANEMIA 1, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, SMITH-KINGSMORE SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SEBASTIAN SYNDROME

FASLG, APOE, ITGB3, ITK, APOB, KCNN4, PLAU, SMAD4, KNG1, FGB, IKBKG, FERMT3, PTPN11, CD40LG, F2, AP3B1, AGT, TGFB1, GATA2, HLA-DRB1, VHL, WAS, CASR, NOS3, ITGA2, ITGB2, ITGA2B, CD27, ELANE, FGA, BMPR1A, IL10, BRCA1, CCND1, RUNX1, JAK2, STAT1, FH, STX11, MMP1, CALR, ACTN1, TMEM173, PSTPIP1, NLRC4, MYH9, RPS19, FGG, FLNA, F13A1, CD40, CIITA, STAT3, DDOST, TINF2, ACD, BCR, MTOR, MYD88

REVESZ SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, 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, 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}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, INCONTINENTIA PIGMENTI, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MYELOPEROXIDASE DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, BLEEDING DISORDER, PLATELET-TYPE, 17, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, WHIM SYNDROME, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, PLATELET GLYCOPROTEIN IV DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, CAMURATI-ENGELMANN DISEASE, HYPERPARATHYROIDISM, NEONATAL, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {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, DIAMOND-BLACKFAN ANEMIA 1, GLANZMANN THROMBASTHENIA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, LEUKEMIA, CHRONIC MYELOID, SOMATIC, HYPOBETALIPOPROTEINEMIA, LYMPHOPROLIFERATIVE SYNDROME 2, WISKOTT-ALDRICH SYNDROME, QUEBEC PLATELET DISORDER, FACTOR XIIIA DEFICIENCY, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, HETEROTOPIA, PERIVENTRICULAR, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME

FASLG, APOE, RPL5, GFI1B, CALR, ITGB3, ITK, KRAS, APOB, RUNX1, IL10, PLAU, SMAD4, PRF1, KNG1, FAS, WAS, FGB, IKBKG, FERMT3, RFXANK, CXCR4, CD40LG, FLNA, AP3B1, AGT, TGFB1, MTOR, STAT1, VHL, THBD, CFH, CASR, FOXP3, NOS3, ITGA2, CPOX, ITGB2, ITGA2B, MMP1, CD27, ELANE, FGA, BMPR1A, CBL, ACTN4, BRCA1, CCND1, THRA, KCNN4, JAK2, HLA-DRB1, FH, STX11, F2, PFKM, CD36, ACTN1, CTLA4, SERPINE1, MPO, TMEM173, TINF2, PSTPIP1, NLRC4, MYH9, RPS19, FGG, NF1, F13A1, LZTR1, CD40, CIITA, STAT3, DDOST, TFRC, NFKBIL1, PTPN11, ACD, BCR, GATA2, MYD88

REVESZ SYNDROME, FACTOR V DEFICIENCY, CAMURATI-ENGELMANN DISEASE, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NIJMEGEN BREAKAGE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HERMANSKY-PUDLAK SYNDROME 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, KENNY-CAFFEY SYNDROME, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ACUTE MYELOID LEUKEMIA, M6 TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, INCONTINENTIA PIGMENTI, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, DIAMOND-BLACKFAN ANEMIA 8, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, DYSKERATOSIS CONGENITA, X-LINKED, ATRANSFERRINEMIA, NOONAN SYNDROME 9, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IVIC SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], WHIM SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, PLATELET GLYCOPROTEIN IV DEFICIENCY, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, HYPERPARATHYROIDISM, NEONATAL, IMMUNODEFICIENCY, COMMON VARIABLE, 13, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, 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}, 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, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HETEROTOPIA, PERIVENTRICULAR, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, QUEBEC PLATELET DISORDER, FACTOR XIIIA DEFICIENCY, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HERMANSKY-PUDLAK SYNDROME 7, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

RPL5, F2, APOB, MMP1, TBCE, F5, FAS, FERMT3, IKBKG, TBXA2R, MUC1, AGT, WRAP53, FGA, IKZF1, STK11, SALL4, CYCS, NBN, TFRC, HSPA9, GFI1B, ADAR, CD40, PRKACG, CD81, NF1, KRAS, RUNX1, IL10, PLAU, LZTR1, NOS3, CAD, MYD88, MTOR, SCARB2, ACTN1, CBL, PSMB8, CCND1, JAK2, STAT1, PFKM, C3, LAMTOR2, WAS, SEC23B, ACD, SOS2, CP, GP6, ITGB3, DKC1, SSR4, SMAD4, ETV6, SMAD9, CD40LG, FLNA, CASR, VHL, FOXP3, BRCA1, ITGB2, ELANE, DTNBP1, FECH, TERT, RPS19, RPS7, F13A1, KIT, EPOR, NRAS, TNFSF11, PRKCD, KNG1, TGFB1, PTPN11, CXCR4, MYH9, STAT3, MT-CO2, FLT3, SOS1, ACTN4, BRAF, PDGFRA, STX11, TF, CD36, FASLG, CALR, OCLN, TINF2, SERPINE1, NPM1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, SEA-BLUE HISTIOCYTE DISEASE, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, QUEBEC PLATELET DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, TRICHOHEPATOENTERIC SYNDROME 1, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, EPSTEIN SYNDROME, NOONAN SYNDROME 10, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LEUKOCYTE ADHESION DEFICIENCY, MAY-HEGGLIN ANOMALY, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, WHIM SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FECHTNER SYNDROME, CAMURATI-ENGELMANN DISEASE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 6, PYRUVATE KINASE DEFICIENCY, COMBINED FACTOR V AND VIII DEFICIENCY, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, HYPERPARATHYROIDISM, NEONATAL, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, INFANTILE, ERYTHROCYTOSIS, FAMILIAL, 3, MEDULLARY CYSTIC KIDNEY DISEASE 1, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NETHERTON SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FACTOR X DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, FACTOR V DEFICIENCY, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

FASLG, APOE, RPL5, RAG1, ITGB3, GPI, REN, IL2RA, MMP1, TTC37, LZTR1, CD40, GP1BA, HBA1, PGK1, KNG1, TGFB1, C3, NOS3, CXCR4, CD40LG, MUC1, FTL, CCND1, MYH9, AGT, MYD88, MTOR, VHL, FCGR2A, MT-CO2, KIF1B, GPX1, PKLR, GGCX, ITGB2, APOB, ELANE, FGA, BMPR1A, IL10, BRCA1, F2, ITGA2, EGLN1, PRKCD, CD27, STAT1, ALPL, PLAU, TF, CYCS, SERPINE1, F10, MASTL, PICALM, CASR, FANCA, PTPN11, CUBN, SERPINF2, LMAN1, SPINK5, STAT3, BMPR2, F5, FLNA, CD81, HRG, COL7A1

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 5, DIAMOND-BLACKFAN ANEMIA 13, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, BONE MARROW FAILURE SYNDROME 1, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, FECHTNER SYNDROME, DIAMOND-BLACKFAN ANEMIA 3, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HERMANSKY-PUDLAK SYNDROME 1, SPHEROCYTOSIS, TYPE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, DIAMOND-BLACKFAN ANEMIA 8, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SPHEROCYTOSIS, TYPE 2, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, HYPERPARATHYROIDISM, NEONATAL, DIAMOND-BLACKFAN ANEMIA 9, BLEEDING DISORDER, PLATELET-TYPE, 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, SEBASTIAN SYNDROME, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 10, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, POLYCYTHEMIA VERA, SOMATIC, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, THROMBOCYTHEMIA 3, PEROXISOME BIOGENESIS DISORDER 3B, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?DIAMOND-BLACKFAN ANEMIA 12, CAMURATI-ENGELMANN DISEASE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPSTEIN SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, DIAMOND-BLACKFAN ANEMIA 1, THROMBOCYTOPENIA 4, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, WISKOTT-ALDRICH SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DIAMOND-BLACKFAN ANEMIA 7, FACTOR XIIIA DEFICIENCY, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HETEROTOPIA, PERIVENTRICULAR, HERMANSKY-PUDLAK SYNDROME 7

AMN, FASLG, APOE, REN, RPS28, RPS26, VPS45, APOB, RPS14, SSR4, PICALM, DNAJC19, SEC23B, SMAD4, STX11, CD40, NME1, WAS, PIGT, TGFB1, PEX19, PTPN11, PEX12, STAT1, SNX10, FLNA, AP3B1, AGT, SRP72, NPM1, HLA-DRB1, STAT3, MT-CO2, SCARB2, CASR, RPL35A, RPS29, NUP214, KRAS, TPI1, CBL, STK11, HSPA9, DTNBP1, F8, PRKCD, JAK2, RPL11, RPL5, COG4, ACD, RPS17, RPL15, TRNT1, CYCS, ACTN1, ACTN4, ACVRL1, COG6, FTH1, TMEM173, TFRC, ANK1, RPS10, MYH9, RPS19, CALR, RPS7, F13A1, ADAR, ABCD3, VIPAS39, KIT, SPTB, DDOST, RPS24, RPL26, SERPINE1, PRKACG, NHP2

NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, SENIOR-LOKEN SYNDROME-1, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PLATELET GLYCOPROTEIN IV DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN 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, HETEROTOPIA, PERIVENTRICULAR, GLANZMANN THROMBASTHENIA, HERMANSKY-PUDLAK SYNDROME 1, ATRANSFERRINEMIA, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, HERMANSKY-PUDLAK SYNDROME 9, CAMURATI-ENGELMANN DISEASE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SPHEROCYTOSIS, TYPE 1, QUEBEC PLATELET DISORDER, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, SICKLE CELL ANEMIA, FACTOR XIIIA DEFICIENCY, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, GLYCOGEN STORAGE DISEASE XII, METHYLMALONIC ACIDURIA, MUT(0) TYPE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, SEA-BLUE HISTIOCYTE DISEASE, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPERPARATHYROIDISM, NEONATAL, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, FACTOR V DEFICIENCY, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 7, SMITH-KINGSMORE SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

KCNA5, APOE, CALR, TNFSF11, HBB, F13A1, APOB, IL2RA, PLAU, FGB, SMAD4, F5, VWF, PTPN11, ACTN4, HBA1, KNG1, TGFB1, NPHP1, NOS3, STAT1, ITGB3, CASR, AGT, MTOR, ACVRL1, F8, FLT3, STEAP3, FLNA, ITGA2B, SOS1, FGA, ALDOA, F2, CCND1, DTNBP1, MUT, JAK2, ANK1, STX11, TF, CD36, ACTN1, CD81, F10, BLOC1S6, HSPA9, FGG, SERPINF2, VPS45, STAT3, BMPR2, MTRR, KIT, SERPINE1, HRG, COL7A1

?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, POLYCYTHEMIA VERA, SOMATIC, CAMURATI-ENGELMANN DISEASE, THROMBOCYTHEMIA 3, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, GLANZMANN THROMBASTHENIA, HYPOBETALIPOPROTEINEMIA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, HYPERPARATHYROIDISM, NEONATAL, WHIM SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, FACTOR XII DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, FACTOR VII DEFICIENCY, HETEROTOPIA, PERIVENTRICULAR, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

C3AR1, KNG1, F2, APOB, F7, VWF, TGFB1, CXCR4, FLNA, CASR, AGT, FLT3, GGCX, ITGB2, ITGA2B, IL10, ITGA2, CCND1, JAK2, CALR, F12, FASLG, STAT3, DDOST, SERPINE1, COL7A1

REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HERMANSKY-PUDLAK SYNDROME 7, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, AICARDI-GOUTIERES SYNDROME 7, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, GLANZMANN THROMBASTHENIA, BENT BONE DYSPLASIA SYNDROME, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 3, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, HERMANSKY-PUDLAK SYNDROME 1, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, FACTOR XII DEFICIENCY, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SPHEROCYTOSIS, TYPE 3, VON WILLEBRAND DISEASE, TYPE 1, 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, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, SPHEROCYTOSIS, TYPE 2, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ATRANSFERRINEMIA, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, 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, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MYELOPEROXIDASE DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, FACTOR X DEFICIENCY, FACTOR VII DEFICIENCY, IVIC SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, FANCONI ANEMIA, COMPLEMENTATION GROUP C, HEREDITARY PYROPOIKILOCYTOSIS, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, WHIM SYNDROME, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ELLIPTOCYTOSIS-2, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, 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}, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HETEROTOPIA, PERIVENTRICULAR, MAY-HEGGLIN ANOMALY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, LYMPHOPROLIFERATIVE SYNDROME 2, QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHEDIAK-HIGASHI SYNDROME, {CELIAC DISEASE, SUSCEPTIBILITY TO}, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, C3AR1, F2, APOB, MMP1, F7, FAS, PGK1, CIITA, BMPR1A, RPL5, ALDOA, AGT, ITGA2B, SPTA1, FGA, IKZF1, STK11, IL2RA, SALL4, TFRC, CYCS, MPO, PRF1, BLOC1S6, CD40, RPS24, CD81, IFIH1, KRAS, RUNX1, CBL, PLAU, LZTR1, IRF5, HBA1, FERMT3, NOS3, CCND1, IKBKG, GATA2, HLA-DRB1, SCARB2, ACTN1, ITGA2, CD27, IL10, HLA-DQA1, CARD9, JAK2, MUC1, VPS33B, C3, TMEM173, ALPL, NLRC4, FANCA, SH2D1A, ITK, STAT3, ACD, HRG, MYD88, TNFSF11, GATA1, FCGR2A, CALR, ITGB3, KCNN4, SMAD4, VWF, CD36, CD40LG, FLNA, CASR, PNP, NUP214, FOXP3, BRCA1, ITGB2, PLEC, ELANE, DTNBP1, CFI, FASLG, PSTPIP1, RPS19, PTPN22, ADA, CFH, DDOST, SLC2A1, PRKCD, CD46, CD59, KNG1, TGFB1, LYST, PTPN11, CXCR4, TNFAIP3, MYH9, STAT1, WAS, F8, FLT3, SOS1, CFB, FGFR2, ACTN4, CD3G, RPL11, FANCC, STX11, TF, F12, CTLA4, HPS1, F10, ETV6, HLA-DQB1, ANK1, AP3B1, CFHR1, OCLN, ATR, SPTB, COL7A1, TINF2, SERPINE1, MTOR

?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, POLYCYTHEMIA VERA, SOMATIC, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LEUKOCYTE ADHESION DEFICIENCY, VON WILLIBRAND DISEASE, TYPE 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, GLANZMANN THROMBASTHENIA, ATRANSFERRINEMIA, HYPOBETALIPOPROTEINEMIA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], LEUKOCYTE ADHESION DEFICIENCY, TYPE III, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, HYPERPARATHYROIDISM, NEONATAL, PLATELET GLYCOPROTEIN IV DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, FACTOR XII DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FACTOR VII DEFICIENCY, HETEROTOPIA, PERIVENTRICULAR, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

C3AR1, CALR, TNFSF11, APOB, VWF, F7, FERMT3, KNG1, TGFB1, CD36, NOS3, CXCR4, F2, CASR, AGT, IKBKG, FLT3, ITGA2, ITGB2, ITGA2B, IL10, CCND1, JAK2, TF, F12, SOS1, FASLG, ADA, FLNA, CD40, STAT3, DDOST, SERPINE1, COL7A1

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

AMN, HLCS, GIF, MMAB, SLC46A1, MTRR, ABCD3, VWF, ACP5, SLC2A1, MTR, PCCB, CYB5A, ITGB2, MMACHC, CBL, C10orf2, MMADHC, MUT, ALPL, TCN2, PCCA, PNPO, ABCD4, SLC19A2, CUBN, CYB5R3, GCLC, PANK2, LMBRD1, DHFR, MMAA

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {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, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, INCONTINENTIA PIGMENTI, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, 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, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, GLANZMANN THROMBASTHENIA, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, LEUKEMIA, CHRONIC MYELOID, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THROMBOCYTOPENIA 4, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, WISKOTT-ALDRICH SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], RHEUMATOID ARTHRITIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODEFICIENCY 46, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, ATRANSFERRINEMIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, NETHERTON SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, BLEEDING DISORDER, PLATELET-TYPE, 17, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DIAMOND-BLACKFAN ANEMIA 1, SMITH-KINGSMORE SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 7, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

FASLG, RPL5, CALR, TNFSF11, KRAS, IL2RA, PSTPIP1, CIITA, CD46, CD59, SPINK5, KNG1, FAS, ACTN4, TGFB1, C3, RFXANK, CXCR4, CD40LG, ITGB3, MYD88, MTOR, HLA-DRB1, EPHX1, WAS, TNFAIP3, FLT3, FOXP3, NOS3, SOS1, CCND1, CBL, F2, DTNBP1, CFI, RUNX1, JAK2, IL10, STAT1, IKBKG, CD40, TF, CYCS, CTLA4, SERPINE1, TMEM173, TFRC, GFI1B, RPS19, ADA, GPX1, PTPN22, STAT3, DDOST, NFKBIL1, PTPN11, BCR

REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, 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, INCONTINENTIA PIGMENTI, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MYELOPEROXIDASE DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, BLEEDING DISORDER, PLATELET-TYPE, 17, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, EMBERGER SYNDROME, POLYCYTHEMIA VERA, SOMATIC, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, WHIM SYNDROME, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, PLATELET GLYCOPROTEIN IV DEFICIENCY, 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, GLYCOGEN STORAGE DISEASE VII, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {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, DIAMOND-BLACKFAN ANEMIA 1, GLANZMANN THROMBASTHENIA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, LEUKEMIA, CHRONIC MYELOID, SOMATIC, HYPOBETALIPOPROTEINEMIA, LYMPHOPROLIFERATIVE SYNDROME 2, QUEBEC PLATELET DISORDER, FACTOR XIIIA DEFICIENCY, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, HETEROTOPIA, PERIVENTRICULAR, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

APOE, F2, APOB, MMP1, FAS, FERMT3, CIITA, TBXA2R, RPL5, AGT, ITGA2B, FGA, TFRC, FH, MPO, PRF1, GFI1B, FGG, CD40, KRAS, RUNX1, CBL, PLAU, LZTR1, ACTN1, NOS3, CPOX, IKBKG, GATA2, HLA-DRB1, CFH, BMPR1A, ITGA2, JAK2, IL10, CCND1, CD27, STAT1, PFKM, TMEM173, CASR, ITK, WAS, ACD, MYD88, ITGB3, KCNN4, SMAD4, FGB, CD40LG, NLRC4, VHL, KIF1B, FOXP3, BRCA1, ITGB2, ELANE, PSTPIP1, RPS19, NF1, F13A1, THBD, DDOST, NFKBIL1, KIT, BCR, FLNA, PRKCD, KNG1, TGFB1, PTPN11, CXCR4, MYH9, STAT3, RFXANK, SOS1, ACTN4, THRA, STX11, CALR, CD36, CTLA4, ACVRL1, FASLG, AP3B1, TINF2, SERPINE1, MTOR

NEPHRONOPHTHISIS 1, JUVENILE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HERMANSKY-PUDLAK SYNDROME 9, {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, HEREDITARY PYROPOIKILOCYTOSIS, SPHEROCYTOSIS, TYPE 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, EPSTEIN SYNDROME, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BENT BONE DYSPLASIA SYNDROME, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, SECKEL SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LEUKOCYTE ADHESION DEFICIENCY, MAY-HEGGLIN ANOMALY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, SENIOR-LOKEN SYNDROME 4, 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, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, SPHEROCYTOSIS, TYPE 2, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HETEROTOPIA, PERIVENTRICULAR, GLANZMANN THROMBASTHENIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SENIOR-LOKEN SYNDROME-1, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, PRIMARY PULMONARY HYPERTENSION, THROMBOCYTOPENIA 4, ELLIPTOCYTOSIS-2, BLEEDING DISORDER, PLATELET-TYPE, 15, FECHTNER SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CAMURATI-ENGELMANN DISEASE, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, SPHEROCYTOSIS, TYPE 1, SEBASTIAN SYNDROME, QUEBEC PLATELET DISORDER, MEDULLARY CYSTIC KIDNEY DISEASE 1, HERMANSKY-PUDLAK SYNDROME 1, HYPOBETALIPOPROTEINEMIA, FACTOR XIIIA DEFICIENCY, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NEPHRONOPHTHISIS 4, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, HYPERPARATHYROIDISM, NEONATAL, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 7, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

GATA1, FASLG, TNFSF11, HBB, SPTA1, IL10, PLAU, SMAD4, CD40, KNG1, NPHP1, TGFB1, C3, ACTN1, CXCR4, CD40LG, MUC1, ITGB3, MYH9, AGT, STAT3, P2RY12, PTPN11, FLNA, NPHP4, ITGA2B, APOB, SOS1, FGA, FGFR2, F2, CCND1, DTNBP1, CBL, WHSC1L1, THRA, PDGFRA, ITGB2, VPS33B, CALR, CYCS, CTLA4, UMOD, PSTPIP1, ANK1, BLOC1S6, CASR, FGG, FGB, F13A1, FERMT3, ATR, SPTB, BMPR2, KIT, SERPINE1, COL7A1

?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, THROMBOCYTHEMIA 3, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, BONE MARROW FAILURE SYNDROME 1, 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, AICARDI-GOUTIERES SYNDROME 6, ATRANSFERRINEMIA, DIAMOND-BLACKFAN ANEMIA 9, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, RHEUMATOID ARTHRITIS, PLATELET GLYCOPROTEIN IV DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, HERMANSKY-PUDLAK SYNDROME 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

SSR4, CALR, PRKCD, CBL, ADAR, SRP72, PTPN11, RPL5, AP3B1, CIITA, HLA-DRB1, IL10, PSMB8, JAK2, STAT1, TF, CD36, HLA-DQB1, RPS10, SMAD4, WAS, DDOST, HLA-DQA1, SERPINE1

REVESZ SYNDROME, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, 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, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, PEUTZ-JEGHERS SYNDROME, BARTH SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, FACTOR V DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, WOLFRAM SYNDROME 2, GLANZMANN THROMBASTHENIA, 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, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, GAUCHER DISEASE, TYPE IIIC, DIAMOND-BLACKFAN ANEMIA 9, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, OROTIC ACIDURIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, NORUM DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, BARTTER SYNDROME, TYPE 2, NIEMANN-PICK DISEASE TYPE C1, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, GM1-GANGLIOSIDOSIS, TYPE II, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, SENIOR-LOKEN SYNDROME-1, GREENBERG SKELETAL DYSPLASIA, FAVISM, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ?THROMBOXANE SYNTHASE DEFICIENCY, PYRUVATE KINASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DYSKERATOSIS CONGENITA, X-LINKED, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ATRANSFERRINEMIA, NOONAN SYNDROME 9, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, YUNIS-VARON SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, HYPER-IGD SYNDROME, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IVIC SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, GAUCHER DISEASE, TYPE I, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SHWACHMAN-DIAMOND SYNDROME, POLYCYTHEMIA VERA, SOMATIC, PELGER-HUET ANOMALY, PROLIDASE DEFICIENCY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, NIEMANN-PICK DISEASE, TYPE A, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 3B, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, GHOSAL HEMATODIAPHYSEAL SYNDROME, NIEMANN-PICK DISEASE, TYPE C2, PROPIONICACIDEMIA, WHIM SYNDROME, GLYCOGEN STORAGE DISEASE IA, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, CHANARIN-DORFMAN SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, WISKOTT-ALDRICH SYNDROME, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, INTRINSIC FACTOR DEFICIENCY, LATHOSTEROLOSIS, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY, COENZYME Q10 DEFICIENCY, PRIMARY, 1, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ABETALIPOPROTEINEMIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, SENGERS SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, BLEEDING DISORDER, PLATELET-TYPE, 11, 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, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MAY-HEGGLIN ANOMALY, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, GM1-GANGLIOSIDOSIS, TYPE III, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, CEROID LIPOFUSCINOSIS, NEURONAL, 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CHEDIAK-HIGASHI SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, 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

APOE, FANCM, HLCS, HBB, CLN3, MMP1, SBDS, F8, F5, LBR, PGK1, IKBKG, CYCS, PKLR, RPL5, ALDOA, FTL, F2, AGT, PCCB, SMPD1, APOB, FGA, BAAT, STK11, LCAT, SALL4, NF1, AGK, G6PC, SOS1, NPC1, TFRC, PICALM, GFI1B, CYB5R3, CD40, UMPS, PRKACG, ABHD5, CD81, MMAA, FIG4, SRD5A3, KRAS, RUNX1, CBL, CIITA, PIGM, LYST, PIGT, NOS3, THRA, KCNJ1, CAD, SMAD9, RYR1, AMACR, GPX1, ACTN1, MECOM, DHFR, IL10, CCND1, RPL11, JAK2, SC5D, FANCC, GP6, SLC35C1, C3, CEBPA, TMEM173, RPS10, CASR, FANCA, SLC22A4, STAT3, CUBN, SOS2, GATA1, TF, GLB1, DKC1, SLC35A2, SMAD4, CYP2C9, COL4A1, VWF, CBS, PEX19, MVK, CD40LG, FLNA, TAZ, VHL, BCS1L, TBXAS1, BRCA1, ITGB2, TPI1, COQ2, MUT, TINF2, CISD2, CYP4V2, FECH, TERT, HSPA9, DGKE, MTTP, NEU1, NPC2, DDOST, ELANE, KIT, FAH, PFKM, SSR4, KNG1, TNFSF11, GIF, PRKCD, ABCD3, DPM1, NPHP1, TGFB1, PEPD, PEX12, FCGR2B, MUC1, MYH9, REN, STAT1, WAS, MT-CO2, G6PD, PTPN11, AKR1D1, PCCA, CYP2A6, CXCR4, FGFR2, ACTN4, C10orf2, GBA, GLA, PDGFRA, DPAGT1, CD36, MTRR, F10, FASLG, PIGA, CALR, CYP7B1, P2RX1, CD46, ITGB3, HSD3B7, SERPINE1, ALG13, MTOR, PLAU

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, RHEUMATOID ARTHRITIS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS

HLA-DQB1, HLA-DRB1, SSR4, SMAD4, HLA-DQA1, CIITA

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, IMMUNODEFICIENCY 21, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, CAMURATI-ENGELMANN DISEASE, HERMANSKY-PUDLAK SYNDROME 9, RHEUMATOID ARTHRITIS, HERMANSKY-PUDLAK SYNDROME 1, BLEEDING DISORDER, PLATELET-TYPE, 17, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CHEDIAK-HIGASHI SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

IL10, BLOC1S6, DTNBP1, GFI1B, AGT, PNP, GATA2, CD40LG, SMAD4, CBL, CD40, STEAP3, STAT3, NLRC4, PTPN11, NME1, HPS1, TGFB1, LYST, NOS3

REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, ANEMIA, SIDEROBLASTIC, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, GLANZMANN THROMBASTHENIA, 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, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FACTOR XII DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, INCONTINENTIA PIGMENTI, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, SPHEROCYTOSIS, TYPE 2, ?THROMBOXANE SYNTHASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IVIC SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, HEREDITARY PYROPOIKILOCYTOSIS, EMBERGER SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, BLEEDING DISORDER, PLATELET-TYPE, 15, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, GHOSAL HEMATODIAPHYSEAL SYNDROME, WHIM SYNDROME, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, HYPERPARATHYROIDISM, NEONATAL, IMMUNODEFICIENCY, COMMON VARIABLE, 13, 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, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, SCOTT SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, VON WILLEBRAND DISEASE, TYPE 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HETEROTOPIA, PERIVENTRICULAR, MAY-HEGGLIN ANOMALY, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, QUEBEC PLATELET DISORDER, DIAMOND-BLACKFAN ANEMIA 7, FACTOR XIIIA DEFICIENCY, IMMUNODEFICIENCY 46, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, 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

CA2, APOE, C3AR1, F2, HBB, APOB, GP1BA, FERMT3, IKBKG, TBXA2R, RPL5, ALPL, AGT, TREX1, ITGA2B, FGA, IKZF1, STK11, ENG, SALL4, TFRC, GATA2, PRF1, RPS19, GFI1B, FGG, CD40, UMPS, F7, KRAS, RUNX1, IL10, PLAU, LZTR1, IRF5, ETV6, FGB, NOS3, CPOX, CCND1, MYD88, MTOR, THBD, BMPR1A, ITGA2, CD27, CBL, CARD9, JAK2, HLA-DRB1, C3, TMEM173, NLRC4, FANCA, LPP, GP9, STAT3, SEC23B, ACD, BMPR2, GATA1, ITGB3, REN, IL2RA, SSR4, SMAD4, VWF, SMAD9, CD36, CD40LG, FLNA, CASR, HRG, VHL, FOXP3, F10, BRCA1, ITGB2, IFIH1, ELANE, WAS, PSTPIP1, HOXA11, HSPA9, RAG2, F13A1, ACVRL1, DDOST, UMOD, DDX41, NME1, TNFSF11, PRKCD, KNG1, TGFB1, HBA1, PTPN11, CXCR4, B4GALT1, MYH9, STAT1, SPTB, MT-CO2, SOS1, FGFR2, ACTN4, ANO6, RPL11, CALR, F12, ACTN1, CTLA4, TBXAS1, FASLG, ANK1, ADA, SERPINF2, CD46, COL7A1, TINF2, SERPINE1, RYR1

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, LEUKOCYTE ADHESION DEFICIENCY, INCONTINENTIA PIGMENTI, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, ERYTHROCYTOSIS, FAMILIAL, 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, WHIM SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, CAMURATI-ENGELMANN DISEASE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, [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, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PLATELET GLYCOPROTEIN IV DEFICIENCY, NEUTROPENIA, CYCLIC, CATARACT 13 WITH ADULT I PHENOTYPE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 6, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, LYMPHOPROLIFERATIVE SYNDROME 2, HYPERPARATHYROIDISM, NEONATAL, WISKOTT-ALDRICH SYNDROME, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], QUEBEC PLATELET DISORDER, MEDULLARY CYSTIC KIDNEY DISEASE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, STORMORKEN SYNDROME, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, HETEROTOPIA, PERIVENTRICULAR, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, SMITH-KINGSMORE SYNDROME, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, IMMUNODEFICIENCY 10, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

FASLG, STIM1, KNG1, TNFSF11, KRAS, GCNT2, CBL, PLAU, CD46, SMAD4, FERMT3, FGB, IKBKG, C3, BMPR1A, CXCR4, CD40LG, MUC1, CARD9, CASR, AGT, TGFB1, MTOR, STAT1, VHL, WAS, FLT3, FOXP3, NOS3, ITGA2, ITGB2, CD27, ELANE, FGA, FGFR2, STK11, CCND1, THPO, THRA, IL10, RUNX1, JAK2, NPM1, RPL5, PDGFRA, F2, PTPN11, CD36, ACTN1, SERPINE1, ITGB3, FGG, NF1, ADAR, CD40, BRAF, STAT3, FLNA, BMPR2, C10orf2, KIT, CD81, SERPINF2, MYD88

?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, NIEMANN-PICK DISEASE TYPE C1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, QUEBEC PLATELET DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GM1-GANGLIOSIDOSIS, TYPE II, MAY-HEGGLIN ANOMALY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, IMMUNODEFICIENCY, COMMON VARIABLE, 6, COMBINED FACTOR V AND VIII DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, DIAMOND-BLACKFAN ANEMIA 6, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE III, PRIMARY PULMONARY HYPERTENSION, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, FECHTNER SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CAMURATI-ENGELMANN DISEASE, CATARACT 13 WITH ADULT I PHENOTYPE, SEBASTIAN SYNDROME, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], [BOMBAY PHENOTYPE], MEDULLARY CYSTIC KIDNEY DISEASE 1, IMMUNODEFICIENCY 23, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, EPSTEIN SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ

KCNA5, DPM1, F2, KRAS, GCNT2, PLAU, SMAD4, PIGA, MPI, PGK1, FUT2, TGFB1, RFT1, NOS3, RPL5, GLB1, MYH9, PMM2, FUT1, MGAT2, STT3B, NPC1, TMEM165, PRKCD, SRD5A3, MUC1, PGM3, B4GALT1, LMAN1, ALG2, CUBN, COG6, FASLG, DPAGT1, CALR, ALG6, STAT3, DDOST, CD81, ALG13

REVESZ SYNDROME, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, MANNOSIDOSIS, ALPHA-, TYPES I AND II, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, FAVISM, BARTH SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, COMBINED FACTOR V AND VIII DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, TRANSALDOLASE DEFICIENCY, FECHTNER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MEDULLARY CYSTIC KIDNEY DISEASE 1, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NIEMANN-PICK DISEASE TYPE C1, GM1-GANGLIOSIDOSIS, TYPE II, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, METHEMOGLOBINEMIA, TYPE IV, GALACTOSEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, DYSKERATOSIS CONGENITA, X-LINKED, 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, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEBASTIAN SYNDROME, [BOMBAY PHENOTYPE], CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, GLYCOGEN STORAGE DISEASE IA, NOONAN SYNDROME 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CATARACT 13 WITH ADULT I PHENOTYPE, HYPERPARATHYROIDISM, NEONATAL, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], GLYCOGEN STORAGE DISEASE IC, IMMUNODEFICIENCY 23, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, COENZYME Q10 DEFICIENCY, PRIMARY, 1, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, GM1-GANGLIOSIDOSIS, TYPE III, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, QUEBEC PLATELET DISORDER, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, SEA-BLUE HISTIOCYTE DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, HETEROTOPIA, PERIVENTRICULAR, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

APOE, LMAN1, F2, CYB5A, APOB, SPATA5, SRD5A3, PGK1, CIITA, ALG2, ACTN1, MUC1, GLB1, AGT, PMM2, STT3B, NPC1, REN, G6PC3, STK11, MAN2B1, NEU1, G6PC, COG6, CYCS, CYB5R3, ADAR, PIGM, FUT1, PRKACG, CD81, GP1BA, KRAS, PLAU, LZTR1, MPI, KNG1, NOS3, CAD, MTOR, GPI, MGAT2, GALT, CCND1, JAK2, RPL5, TALDO1, PFKM, SLC35C1, CASR, ALG6, SLC25A13, TSR2, BRAF, TMEM165, KCNA5, CALR, ITGB3, DKC1, SLC35A2, SMAD4, FUT2, FLNA, TAZ, BRCA1, ITGB2, ELANE, COQ2, GCNT2, PGM3, SLC37A4, HK1, GCLC, DDOST, TPI1, PIGA, SLC2A1, PRKCD, DPM1, RFT1, TGFB1, PTPN11, B4GALT1, MYH9, STAT3, MT-CO2, G6PD, PKLR, SOS1, ALDOA, BPGM, GLA, DPAGT1, CUBN, FASLG, MPDU1, TINF2, SERPINE1, ALG13

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PEUTZ-JEGHERS SYNDROME, PLATELET GLYCOPROTEIN IV DEFICIENCY, NEUTROPENIA, CYCLIC, HYPOBETALIPOPROTEINEMIA, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CAMURATI-ENGELMANN DISEASE, HYPERPARATHYROIDISM, NEONATAL, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FACTOR XII DEFICIENCY, SEA-BLUE HISTIOCYTE DISEASE, FACTOR VII DEFICIENCY, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

APOE, KNG1, F2, APOB, SMAD4, F7, MYD88, CD36, NOS3, B4GALT1, CASR, AGT, TGFB1, F8, ELANE, FGFR2, STK11, CALR, F12, CEBPA, SERPINF2, STAT3, SERPINE1

LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5, ANEMIA, SIDEROBLASTIC, 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, EPSTEIN SYNDROME, 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, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, SECKEL SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN SYNDROME 10, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ATRANSFERRINEMIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, OMENN SYNDROME, THROMBOCYTOPENIA 4, BLEEDING DISORDER, PLATELET-TYPE, 15, FECHTNER SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, SEBASTIAN SYNDROME, WHIM SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 13, CAMURATI-ENGELMANN DISEASE, QUEBEC PLATELET DISORDER, MEDULLARY CYSTIC KIDNEY DISEASE 1, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, 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, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY 46, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HETEROTOPIA, PERIVENTRICULAR, 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

GATA1, FASLG, PRF1, RPL5, RAG1, TNFSF11, ITK, KRAS, PRKCD, CBL, PLAU, SMAD4, PTPN22, CBFB, IRF5, CIITA, C3, BMPR1A, CXCR4, CD40LG, MUC1, SNX10, ALDOA, MYH9, AGT, TGFB1, GATA2, SERPINE1, FLT3, FOXP3, ACTN1, BRCA1, SOS1, GFI1B, FTL, IKZF1, BRAF, CCND1, IL10, RUNX1, JAK2, RPL11, STAT1, CD40, MMP1, TF, DCLRE1C, CYCS, CD81, CEBPA, TFRC, FANCA, HSPA9, ADA, RAG2, XRCC4, LZTR1, ATR, STAT3, FLNA, KNG1, PTPN11, KIT, BCR, BCL11A, MTOR, CALR

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, FAVISM, GM1-GANGLIOSIDOSIS, TYPE II, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, GLYCOGEN STORAGE DISEASE IA, IMMUNODEFICIENCY, COMMON VARIABLE, 6, PYRUVATE KINASE DEFICIENCY, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, TRANSALDOLASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE III, BLEEDING DISORDER, PLATELET-TYPE, 15, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, [BOMBAY PHENOTYPE], HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XII, GLYCOGEN STORAGE DISEASE VII, GALACTOSEMIA, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1