ABCA3 | Interstitial lung disease, Surfactant metabolism dysfunction, pulmonary | AD/AR | 11 | 182 |
ABCB7 | Anemia, sideroblastic, and spinocerebellar ataxia | XL | 8 | 9 |
ABCG5 | Sitosterolemia | AR | 13 | 39 |
ABCG8 | Sitosterolemia | AR | 17 | 35 |
ACD | Dyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita, autosomal recessive 7 | AD/AR | 2 | 8 |
ACTB | Baraitser-Winter syndrome | AD | 46 | 54 |
ACTN1 | Bleeding disorder, platelet- | AD | 7 | 24 |
ADAMTS13 | Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, familial | AR | 27 | 167 |
AK2 | Reticular dysgenesis | AR | 14 | 17 |
ALAS2 | Anemia, sideroblastic, Protoporphyria, erythropoietic | XL | 27 | 98 |
AMN | Megaloblastic anemia-1, Norwegian | AR | 26 | 33 |
ANK1 | Spherocytosis | AD/AR | 14 | 88 |
ANKRD26 | Thrombocytopenia | AD | 6 | 21 |
AP3B1 | Hermansky-Pudlak syndrome | AR | 14 | 31 |
AP3D1 | Hermansky-Pudlak syndrome 10 | AR | 1 | 2 |
ARPC1B | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | AR | 2 | 4 |
ATM | Breast cancer, Ataxia-Telangiectasia | AD/AR | 860 | 1026 |
ATR | Cutaneous telangiectasia and cancer syndrome, Seckel syndrome | AD/AR | 8 | 18 |
ATRX | Carpenter-Waziri syndrome, Alpha-thalassemia/mental retardation syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, Mental retardation-hypotonic facies syndrome | XL | 59 | 163 |
BLM | Bloom syndrome | AR | 91 | 107 |
BLOC1S3 | Hermansky-Pudlak syndrome | AR | 2 | 2 |
BLOC1S6 | Hermansky-Pudlak syndrome | AR | 1 | 1 |
BRAF | LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndrome | AD | 135 | 65 |
BRCA1 | Pancreatic cancer, Breast-ovarian cancer, familial | AD | 2560 | 2361 |
BRCA2 | Fanconi anemia, Medulloblastoma, Glioma susceptibility, Pancreatic cancer, Wilms tumor, Breast-ovarian cancer, familial | AD/AR | 2959 | 2364 |
BRIP1 | Fanconi anemia, Breast cancer | AD/AR | 182 | 166 |
C15ORF41 | Congenital dyserythropoietic anemia | AR | 3 | 2 |
CBL | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | AD | 23 | 38 |
CDAN1 | Anemia, dyserythropoietic congenital | AR | 12 | 49 |
CDKN2A | Melanoma, familial, Melanoma-pancreatic cancer syndrome | AD | 81 | 230 |
CEBPA | Acute myeloid leukemia, familial | AD | 15 | 10 |
CLCN7 | Osteopetrosis | AD/AR | 13 | 95 |
CLPB | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) | AR | 25 | 25 |
CSF2RA | Surfactant metabolism dysfunction, pulmonary | XL | 2 | 17 |
CSF3R | Neutrophilia, hereditary | AD | 10 | 10 |
CTC1 | Cerebroretinal microangiopathy with calcifications and cysts | AR | 16 | 30 |
CTSC | Periodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre syndrome | AR | 16 | 92 |
CUBN | Megaloblastic anemia-1, Finnish | AR | 37 | 52 |
CXCR4 | Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome | AD | 5 | 15 |
CYB5R3 | Methemoglobinemia due to methemoglobin reductase deficiency | AR | 21 | 66 |
CYCS* | Thrombocytopenia | AD | 2 | 3 |
DDX41 | Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility to | AD | 8 | 14 |
DHFR | Megaloblastic anemia due to dihydrofolate reductase deficiency | AR | 2 | 5 |
DKC1 | Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenita | XL | 47 | 71 |
DNAJC21 | Bone marrow failure syndrome 3 | AR | 5 | 8 |
DTNBP1 | Hermansky-Pudlak syndrome | AR | 2 | 2 |
EGLN1 | Hemoglobin, high altitude adapation | AD | 3 | 30 |
ELANE | Neutropenia | AD | 38 | 215 |
EPAS1 | Erthyrocytosis, familial 4 | AD | 3 | 19 |
EPB41 | Ellipsocytosis 1 | AR | 6 | 12 |
EPB42 | Spherocytosis | AR | 8 | 14 |
EPCAM | Diarrhea 5, with tufting enteropathy, congenital, Colorectal cancer, hereditary nonpolyposis | AD/AR | 26 | 75 |
EPOR | Erythrocytosis, familial, 1 | AD | 4 | 25 |
ERCC4 | Fanconi anemia, Xeroderma pigmentosum, XFE progeroid syndrome | AR | 11 | 59 |
ERCC6L2 | Bone marrow failure syndrome 2 | AR | 4 | 2 |
ETV6 | Thrombocytopenia 5 | AD | 10 | 33 |
F2 | Thrombophilia due to thrombin defect, Prothrombin deficiency, congenital | AD/AR | 14 | 62 |
F5 | Factor V deficiency, Thrombophilia due to activated protein C resistance | AD/AR | 18 | 154 |
F7 | Factor VII deficiency | AR | 27 | 316 |
F8* | Hemophilia A | XL | 293 | 3129 |
F9 | Hemophilia B, Warfarin sensitivity, Thrombophilia, due to factor IX defect | XL | 115 | 1280 |
F10 | Factor X deficiency | AR | 15 | 150 |
F11 | Factor XI deficiency | AD/AR | 57 | 256 |
F12 | Angioedema, Factor XII deficiency | AD/AR | 7 | 52 |
F13A1 | Factor XIIIA deficiency | AR | 20 | 180 |
F13B | Factor XIIIB deficiency | AR | 4 | 18 |
FADD | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | AR | 2 | 1 |
FANCA | Fanconi anemia | AR | 76 | 541 |
FANCB | Fanconi anemia | XL | 10 | 20 |
FANCC | Fanconi anemia | AR | 70 | 58 |
FANCD2 | Fanconi anemia | AR | 14 | 57 |
FANCE | Fanconi anemia | AR | 5 | 16 |
FANCF | Fanconia anemia | AR | 7 | 16 |
FANCG | Fanconi anemia | AR | 13 | 89 |
FANCI | Fanconi anemia | AR | 12 | 43 |
FANCL | Fanconi anemia | AR | 7 | 22 |
FANCM | Fanconi anemia | AR | 2 | 49 |
FAS | Autoimmune lymphoproliferative syndrome | AD/AR | 28 | 131 |
FASLG | Autoimmune lymphoproliferative syndrome, type IB | AD | 3 | 9 |
FGA | Afibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenital, Familial visceral amyloidosis | AD/AR | 10 | 141 |
FGB | Afibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenital | AD/AR | 6 | 90 |
FGG | Afibrinogenemia, congenital, Hypodysfibrinogenemia, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenital | AD/AR | 6 | 125 |
FLI1 | Thrombocytopenia, Paris-Trousseau type, Bleeding disorder, platelet type 21 | AD | 7 | 7 |
FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects | XL | 119 | 235 |
FYB | Thrombocytopenia 3 | AR | 2 | 2 |
G6PC3 | Neutropenia, severe congenital, Dursun syndrome | AR | 12 | 37 |
G6PD | Glucose-6-phosphate dehydrogenase deficiency | XL | 42 | 222 |
GATA1 | Anemia, without thrombocytopenia, Thrombocytopenia with beta-thalessemia,, Dyserythropoietic anemia with thrombocytopenia | XL | 19 | 15 |
GATA2 | Myelodysplastic syndrome, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Acute myeloid leukemia, Emberger syndrome, Immunodeficiency | AD | 26 | 105 |
GFI1 | Neutropenia, severe congenital, 2 autosomal dominant, Neutropenia, nonimmune chronic idiopathic, of adults | AD | 2 | 5 |
GFI1B | Bleeding disorder, platelet-type, 17 | AD | 6 | 8 |
GGCX | Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, Vitamin K-dependent clotting factors, combined deficiency | AD/AR/Digenic | 13 | 40 |
GINS1 | Immunodeficiency | AR | 4 | 4 |
GP1BA | Pseudo-von Willebrand disease, Bernard-Soulier syndrome | AD/AR | 9 | 71 |
GP1BB | Giant platelet disorder, isolated, Bernard-Soulier syndrome | AD/AR | 5 | 53 |
GP9 | Bernard-Soulier syndrome | AR | 6 | 40 |
GPI | Hemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiency | AD | 11 | 37 |
GPR143 | Nystagmus, congenital, Ocular albinism | XL | 22 | 148 |
GSS | Glutathione synthetase deficiency | AR | 8 | 34 |
HAX1 | Neutropenia, severe congenital | AR | 9 | 19 |
HBA1 | Alpha-thalassemia (Hemoglobin Bart syndrome), Alpha-thalassemia (Hemoglobin H disease) | AR/Digenic | 16 | 205 |
HBA2 | Alpha-thalassemia (Hemoglobin Bart syndrome), Alpha-thalassemia (Hemoglobin H disease) | AR/Digenic | 41 | 286 |
HBB | Sickle cell disease, Thalassemia-beta, dominant inclusion body, Other Thalassemias/Hemoglobinopathies, Beta-thalassemia, Hereditary persistence of fetal hemogoblin | AD/AR/Digenic | 200 | 854 |
HFE | Hemochromatosis | AR/Digenic | 10 | 56 |
HOXA11 | Radioulnar synostosis with amegakaryocytic thrombocytopenia | AD | 1 | 1 |
HPS1 | Hermansky-Pudlak syndrome | AR | 28 | 45 |
HPS3 | Hermansky-Pudlak syndrome | AR | 8 | 15 |
HPS4 | Hermansky-Pudlak syndrome | AR | 16 | 18 |
HPS5 | Hermansky-Pudlak syndrome | AR | 20 | 27 |
HPS6 | Hermansky-Pudlak syndrome | AR | 13 | 26 |
HRAS | Costello syndrome, Congenital myopathy with excess of muscle spindles | AD | 41 | 29 |
IFNGR2 | Immunodeficiency | AR | 4 | 18 |
IKZF1 | Immunodeficiency, common variable, 13 | AD | 7 | 12 |
ITGA2 | Fetal and neonatal alloimmune thrombocytopenia | AD/AR | | 3 |
ITGA2B | Glanzmann thrombasthenia | AD/AR | 21 | 211 |
ITGB3 | Bleeding disorder, platelet-, Thrombocytopenia, neonatal alloimmune, Glanzmann thrombasthenia | AD/AR | 18 | 152 |
ITK | Lymphoproliferative syndrome | AR | 4 | 10 |
JAGN1 | Neutropenia, severe congenital | AR | 8 | 8 |
JAK2 | Thrombocythemia 3 | AD | 12 | 17 |
KLF1 | Anemia, dyserythropoietic congenital, Blood group, Lutheran inhibitor, Hereditary persistence of fetal hemoglobin | AD/BG | 16 | 46 |
KRAS | Noonan syndrome, Cardiofaciocutaneous syndrome | AD | 61 | 34 |
LAMTOR2 | Immunodeficiency due to defect in MAPBP-interacting protein | AR | 1 | 1 |
LMAN1 | Combined factor V and VIII deficiency | AR | 5 | 37 |
LPIN2 | Majeed syndrome | AR | 9 | 12 |
LYST | Chediak-Higashi syndrome | AR | 46 | 87 |
MAGT1 | Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia, Mental retardation, X-linked 95 | XL | 5 | 14 |
MAP2K1 | Cardiofaciocutaneous syndrome | AD | 45 | 21 |
MAP2K2 | Cardiofaciocutaneous syndrome | AD | 21 | 35 |
MASTL | Thrombocytopenia | AD | | 4 |
MCFD2 | Factor V & Factor VIII, combined deficiency of | AR | 8 | 20 |
MECOM | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | AD | 3 | 5 |
MKL1 | Primary immunodeficiency | AR | | 3 |
MLH1 | Muir-Torre syndrome, Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposis | AD/AR | 829 | 1174 |
MPL | Thrombocythemia, Amegakaryocytic thrombocytopenia | AD/AR | 22 | 50 |
MSH2 | Muir-Torre syndrome, Endometrial cancer, Colorectal cancer, hereditary nonpolyposis,, Mismatch repair cancer syndrome | AD/AR | 874 | 1224 |
MSH6 | Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposis | AD/AR | 580 | 569 |
MTHFD1 | Severe combined immunodeficiency | AR | 9 | 9 |
MTR | Methylmalonic acidemia | AR | 13 | 40 |
MYH9 | Sebastian syndrome, May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, Deafness, autosomal dominant 17 | AD | 23 | 117 |
MYO5A | Griscelli syndrome | AR | 5 | 6 |
NBEAL2 | Gray platelet syndrome | AR | 10 | 44 |
NBN | Breast cancer, Nijmegen breakage syndrome | AD/AR | 141 | 87 |
NF1 | Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndrome | AD | 810 | 2703 |
NHP2 | Dyskeratosis congenita | AR | 3 | 3 |
NOP10 | Dyskeratosis congenita | AR | 1 | 1 |
NRAS | Noonan syndrome | AD | 31 | 14 |
NT5C3A | Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to | AR | 10 | 28 |
OCA2 | Albinism, brown oculocutaneous, Albinism, oculocutaneous, Skin/hair/eye pigmentation | AD/AR | 43 | 234 |
P2RY12 | Bleeding disorder, platelet- | AD/AR | 3 | 12 |
PALB2 | Fanconi anemia, Pancreatic cancer, Breast cancer | AD/AR | 422 | 358 |
PARN* | Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenita | AD/AR | 15 | 24 |
PAX5 | Pre-B cell acute lymphoblastic leukemia | AD | | 5 |
PC | Pyruvate carboxylase deficiency | AR | 31 | 40 |
PDHA1 | Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiency | XL | 62 | 191 |
PDHX | Pyruvate dehydrogenase E3-binding protein deficiency | AR | 14 | 22 |
PGM3 | Immunodeficiency 23 | AR | 13 | 14 |
PIEZO1 | Dehydrated hereditary stomatocytosis, Lympehedema, hereditary III | AD | 22 | 44 |
PKLR | Pyruvate kinase deficiency, Elevation of red blood cell ATP levels, familial | AR | 17 | 263 |
PMS2 | Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposis | AD/AR | 259 | 324 |
PRF1 | Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis | AR | 22 | 172 |
PRKACG | Bleeding disorder, platelet-type, 19 | AR | 1 | 1 |
PROC | Thrombophilia, hereditary | AD/AR | 31 | 386 |
PROS1 | Thrombophilia, hereditary | AD/AR | 19 | 413 |
PTPN11 | Noonan syndrome, Metachondromatosis | AD | 128 | 139 |
PUS1 | Mitochondrial myopathy and sideroblastic anemia | AR | 7 | 8 |
RAB27A | Griscelli syndrome, Elejalde syndrome | AR | 17 | 53 |
RAC2 | Neutrophil immunodeficiency syndrome | AD | 2 | 3 |
RAD51C | Fanconi anemia, Breast-ovarian cancer, familial | AD/AR | 92 | 112 |
RBM8A | Thrombocytopenia - absent radius | AD/AR | 4 | 10 |
RECQL4 | Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome | AR | 53 | 100 |
REN | Hyperuricemic nephropathy, Hyperproreninemia, familial, Renal tubular dysgenesis | AD | 8 | 18 |
RHAG | Overhydrated hereditary stomatocytosis, Anemia, hemolytic, Rh-null, regulator type, Anemia, hemolytic,Rh-Mod type, RHAG blood group | AD/AR/BG | 13 | 27 |
RIT1 | Noonan syndrome | AD | 20 | 25 |
RNF168 | RIDDLE syndrome | AR | 4 | 4 |
RPL5 | Diamond-Blackfan anemia | AD | 14 | 72 |
RPL11 | Diamond-Blackfan anemia | AD | 9 | 41 |
RPL15 | Diamond-Blackfan anemia | AD | 2 | 2 |
RPL35A | Diamond-Blackfan anemia | AD | 5 | 14 |
RPS7 | Diamond-Blackfan anemia | AD | 2 | 9 |
RPS10 | Diamond-Blackfan anemia | AD | 3 | 5 |
RPS19 | Diamond-Blackfan anemia | AD | 22 | 168 |
RPS24 | Diamond-Blackfan anemia | AD | 5 | 9 |
RPS26 | Diamond-Blackfan anemia | AD | 10 | 30 |
RPS29 | Diamond-Blackfan anemia | AD | 4 | 3 |
RTEL1 | Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenita | AD/AR | 33 | 45 |
RUNX1 | Platelet disorder, familial, with associated myeloid malignancy | AD | 25 | 92 |
SAMD9 | Mirage syndrome, Tumoral calcinosis, normophosphatemic | AR | 7 | 17 |
SAMD9L | Ataxia-pancytopenia syndrome | AD | 4 | 4 |
SBDS | Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasia | AD/AR | 21 | 90 |
SEC23B | Anemia, dyserythropoietic congenital | AR | 15 | 120 |
SERPINC1 | Antithrombin III deficiency | AD/AR | 43 | 395 |
SFTPB | Surfactant metabolism dysfunction, pulmonary | AR | 5 | 27 |
SFTPC | Surfactant metabolism dysfunction, pulmonary | AD | 8 | 77 |
SH2D1A | Lymphoproliferative syndrome | XL | 15 | 126 |
SLC4A1 | Spherocytosis, Ovalcytosis, Renal tubular acidosis, distal, with hemolytic anemia, Cryohydrocytosis, Acanthocytosis, Band 3 Memphis | AD/AR/BG | 33 | 114 |
SLC19A2 | Thiamine-responsive megaloblastic anemia syndrome | AR | 13 | 49 |
SLC25A38 | Anemia, sideroblastic 2, pyridoxine-refractory | AR | 6 | 25 |
SLC37A4 | Glycogen storage disease | AR | 29 | 109 |
SLC45A2 | Skin/hair/eye pigmentation, Oculocutaneous albinism | AD/AR | 16 | 111 |
SLC46A1 | Folate malabsorption | AR | 17 | 20 |
SLFN14 | Thrombocytopenia | AD/AR | 4 | 4 |
SLX4 | Fanconi anemia | AR | 14 | 54 |
SMARCD2 | Specific granule defiency 2 | AR | 3 | 1 |
SOS1 | Noonan syndrome | AD | 45 | 67 |
SPTA1 | Spherocytosis, Ellipsocytosis, Pyropoikilocytosis | AD/AR | 24 | 42 |
SPTB | Spherocytosis, Anemia, neonatal hemolytic, Ellipsocytosis | AD/AR | 18 | 74 |
SRC | Thrombocytopenia, autosomal dominant, 6 | AD | 2 | 1 |
SRP72* | Bone marrow failure syndrome 1 | AD | 2 | 2 |
STX11 | Hemophagocytic lymphohistiocytosis, familial | AR | 6 | 18 |
STXBP2 | Hemophagocytic lymphohistiocytosis, familial | AR | 9 | 69 |
TBXA2R | Bleeding disorder, platelet- | AD | 1 | 6 |
TCN2 | Transcobalamin II deficiency | AR | 9 | 33 |
TERC | Aplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenita | AD | 38 | 67 |
TERT | Aplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenita | AD/AR | 43 | 152 |
TF | Atransferrinemia | AR | 8 | 16 |
THBD | Thrombophilia due to thrombomodulin defect, Hemolytic uremic syndrome, atypical | AD | 5 | 22 |
THPO | Thrombocythemia 1 | AD | 5 | 9 |
TINF2 | Revesz syndrome, Dyskeratosis congenita | AD | 23 | 37 |
TMPRSS6 | Iron-refractory iron deficiency anemia | AR | 13 | 76 |
TP53 | Colorectal cancer, Li-Fraumeni syndrome, Ependymoma, intracranial, Choroid plexus papilloma, Breast cancer, familial, Adrenocortical carcinoma, Osteogenic sarcoma, Hepatoblastoma, Non-Hodgkin lymphoma | AD | 372 | 481 |
TPI1 | Triosephosphate isomerase deficiency | AR | 8 | 19 |
TRNT1 | Retinitis pigmentosa and erythrocytic microcytosis | AR | 13 | 26 |
TUBB1 | Macrothrombocytopenia | AD | 2 | 7 |
TYR | Albinism, oculocutaneous | AR | 77 | 391 |
TYRP1 | Albinism, oculocutaneous | AR | 10 | 39 |
UNC13D | Hemophagocytic lymphohistiocytosis, familial | AR | 15 | 156 |
USB1 | Poikiloderma with neutropenia | AR | 23 | 22 |
VKORC1 | Drug metabolism, VKORC1-related, Vitamin K-dependent clotting factors, combined deficiency | AD/AR | 4 | 27 |
VPS13B | Cohen syndrome | AR | 248 | 199 |
VPS45 | Neutropenia, severe congenital, 5, autosomal recessive | AR | 3 | 4 |
VWF | Von Willebrand disease | AD/AR | 52 | 948 |
WAS | Neutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndrome | XL | 53 | 435 |
WDR1 | | AR | | 8 |
WIPF1 | Wiskott-Aldrich syndrome 2 | AR | 2 | 2 |
WRAP53 | Dyskeratosis congenita | AR | 7 | 5 |
XIAP | Lymphoproliferative syndrome | XL | 9 | 83 |
XRCC2 | Hereditary breast cancer | AD/AR | 10 | 20 |
YARS2 | Myopathy, lactic acidosis, and sideroblastic anemia | AR | 26 | 11 |