Gene
|
OMIM (Gene)
|
Associated diseases (OMIM)
|
Inheritance
|
ABCB7 |
300135 |
Anemia, Sideroblastic, and Spinocerebellar Ataxia |
XLR |
ACTN1 |
102575 |
Bleeding disorder, platelet-type, 15 |
AD |
ADAMTS13 |
604134 |
thrombotic thrombocytopenic purpura |
AR |
AK2 |
103020 |
Reticular dysgenesis |
AR |
ALAS2 |
301300 |
X-linked sideroblastic anemia; Protoporphyria, erythropoietic, X-linked |
XL, XLR |
AMN |
605799 |
|
AR |
ANK1 |
612641 |
Spherocytosis, type 1 |
AD, AR |
ANKRD26 |
610855 |
thrombocytopenia type 2 |
AD |
AP3B1 |
603401 |
Hermansky-Pudlak syndrome type 2 |
AR |
ATM |
607585 |
familial breast-ovarian cancer type 2; ataxia-telangiectasia |
AD, AR |
ATRX |
300032 |
Alpha-Thalassemia Myelodysplasia Syndrome; Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; Mental retardation-hypotonic facies syndrome, X-linked |
XLD, XLR |
BLM |
604610 |
Bloom syndrome |
AR |
BLOC1S3 |
609762 |
Hermansky-Pudlak syndrome 8 |
AR |
BRCA1 |
113705 |
familial breast-ovarian cancer type 1; pancreatic cancer type 4; Fanconi anemia, complementation group S |
AD, AR |
BRCA2 |
600185 |
familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 |
AD, AR |
BRIP1 |
605882 |
familial breast-ovarian cancer type 2; Fanconi anemia of complementation group J |
AD |
CASP10 |
601762 |
Autoimmune lymphoproliferative syndrome, type II; Lymphoma, non-Hodgkin; Gastric Cancer |
AD |
CBL |
165360 |
Leukemia, juvenile myelomonocytic; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia |
AD |
CBLIF |
609342 |
Intrinsic factor deficiency |
AR |
CD36 |
173510 |
Platelet glycoprotein IV deficiency; resistance to malaria |
AR |
CD40LG |
300386 |
Immunodeficiency With Hyper-Igm, Type 1 |
XLR |
CDAN1 |
607465 |
congenital dyserythropoietic anemia 1 |
AR |
CDIN1 |
615626 |
congenital dyserythropoietic anemia 1b |
AR |
CENPJ |
609279 |
primary microcephaly 6; Seckel syndrome 4 |
AR |
CEP152 |
613529 |
Seckel syndrome 5; primary microcephaly 9 |
AR |
CLCN7 |
602727 |
Osteopetrosis, autosomal dominant 2; Osteopetrosis, autosomal recessive 4 |
AD, AR |
CLPB |
616254 |
3-methylglutaconic aciduria type VII with cataracts, neurologic involvement and neutropenia |
AR |
CSF3R |
138971 |
Neutropenia, severe congenital, 7, autosomal recessive |
AR |
CTC1 |
613129 |
Cerebroretinal microangiopathy with calcifications and cysts |
AR |
CUBN |
602997 |
megaloblastic anemia 1 |
AR |
CXCR4 |
162643 |
WHIM syndrome |
AD |
CYB5R3 |
613213 |
methemoglobinemia type I |
AR |
CYCS |
123970 |
Thrombocytopenia 4 |
AD |
DHFR |
126060 |
|
AR |
DIAPH1 |
602121 |
Deafness, autosomal dominant 1; Seizures, cortical blindness, microcephaly syndrome |
AD, AR |
DKC1 |
300126 |
X-linked dyskeratosis congenita |
XLR |
DTNBP1 |
607145 |
Hermansky-Pudlak syndrome 7 |
AR |
ELANE |
130130 |
Neutropenia, cyclic; Neutropenia, severe congenital 1, autosomal dominant |
AD |
EPB42 |
177070 |
Spherocytosis, type 5 |
|
ERCC4 |
133520 |
xeroderma pigmentosum complementation group F; XFE prpgeroid syndroem; Fanconi anemia of complementation group Q |
AR |
FANCA |
607139 |
Fanconi anemia complementation group A |
AR |
FANCB |
300515 |
Fanconi anemia of complementation group B |
XLR |
FANCC |
613899 |
Fanconi anemia of complementation group C |
AR |
FANCD2 |
613984 |
Fanconi anemia of complementation group D2 |
AR |
FANCE |
613976 |
Fanconi anemia of complementation group E |
AR |
FANCF |
613897 |
Fanconi anemia of complementation group F |
|
FANCG |
602956 |
Fanconi anemia of complementation group G |
|
FANCI |
611360 |
Fanconi anemia of complementation group I |
AR |
FANCL |
608111 |
Fanconi anemia of complementation group L |
AR |
FANCM |
609644 |
Spermatogenic failure 28 |
AR |
FAS |
134637 |
Autoimmune lymphoproliferative syndrome |
AD |
FASLG |
134638 |
Lung Cancer; Autoimmune lymphoproliferative syndrome |
AD |
G6PC3 |
611045 |
Neutropenia, severe congenital 4, autosomal recessive |
AR |
G6PD |
305900 |
glucose-6-phosphate dehydrogenase deficiency; resistance to malaria |
XLD |
GATA1 |
305371 |
X-linked congenital dyserythropoietic anemia with thrombocytopenia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; beta-thalassemia - X-linked thrombocytopenia |
XLR |
GFI1 |
600871 |
Neutropenia, severe congenital 2, autosomal dominant |
AD |
GFI1B |
604383 |
Bleeding disorder, platelet-type, 17 |
AD, AR |
GLRX5 |
609588 |
Anemia, sideroblastic, 3, pyridoxine-refractory |
AR |
GNE |
603824 |
Sialuria; Nonaka myopathy |
AD, AR |
GP1BA |
606672 |
Bernard-Soulier syndrome, type A2 (dominant); platelet type von Willebrand disease; Bernard-Soulier syndrome, type C |
AD, AR |
GP1BB |
138720 |
Bernard-Soulier syndrome, type C |
AR |
GP9 |
173515 |
Bernard-Soulier syndrome, type C |
AR |
GPI |
172400 |
nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency |
AR |
GSS |
601002 |
Glutathione synthetase deficiency |
AR |
HAX1 |
605998 |
autosomal recessive severe congenital neutropenia type 3 |
AR |
HBA1 |
141800 |
Heinz Body Anemias; alpha-Thalassemia; Hemoglobin H Disease |
AD |
HBA2 |
141850 |
Heinz Body Anemias; alpha-Thalassemia; Hemoglobin H Disease |
AD |
HBB |
141900 |
Heinz Body Anemias; Delta-beta thalassemia; dominantly inherited inclusion body beta-thalassemia; sickle cell anemia; resistance to malaria; beta-thalassemia |
AD, AR |
HFE |
613609 |
Alzheimer Disease; hepatoerythropoietic porphyria; variegate porphyria; hemochromatosis type 1; susceptibility to microvascular complications of diabetes type 7; Transferrin serum level QTL2 |
AD, AR |
HOXA11 |
142958 |
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 |
AD |
HPS1 |
604982 |
Hermansky-Pudlak syndrome type 1 |
AR |
HPS3 |
606118 |
Hermansky-Pudlak syndrome type 3 |
AR |
HPS4 |
606682 |
Hermansky-Pudlak syndrome type 4 |
AR |
HPS5 |
607521 |
Hermansky-Pudlak syndrome type 5 |
AR |
HPS6 |
607522 |
Hermansky-Pudlak syndrome type 6 |
AR |
HSPA9 |
600548 |
Sideroblastic anemia type 4 |
AD, AR |
IL2RG |
308380 |
Severe X-linked combined immunodeficiency; moderate X-linked combined immunodeficiency |
XLR |
ITGA2B |
607759 |
Bleeding disorder, platelet-type, 16, autosomal dominant; Glanzmann thrombasthenia |
AD, AR |
ITGB3 |
173470 |
Bleeding disorder, platelet-type, 16, autosomal dominant; Glanzmann thrombasthenia; Myocardial infarction, decreased susceptibility to |
AD, AR |
ITK |
186973 |
Lymphoproliferative syndrome 1 |
AR |
JAGN1 |
616012 |
Neutropenia, severe congenital, 6, autosomal recessive |
AR |
KLF1 |
600599 |
Blood group--lutheran inhibitor; Fetal hemoglobin quantitative trait locus 6; Anemia, congenital dyserythropoietic, type iv |
AD |
KRAS |
190070 |
Arteriovenous malformations of the brain; Bladder Cancer; familial breast-ovarian cancer type 2; Gastric Cancer, Hereditary Diffuse; Schimmelpenning-Feuerstein-Mims Syndrome; Lung Cancer; Pancreatic Cancer; acute myeloid leukemia; Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type IV; Cardiofaciocutaneous syndrome 2 |
AD |
LIG4 |
601837 |
LIG4 syndrome |
AR |
LPIN2 |
605519 |
Majeed syndrome |
|
LYST |
606897 |
Chediak-Higashi syndrome |
AR |
MLH1 |
120436 |
Muir-Torre syndrome; mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-2 |
AD, AR |
MPL |
159530 |
somatic myelofibrosis with myeloid metaplasia; thrombocythemia type 2; congenital amegakaryocytic thrombocytopenia |
AD, AR |
MRE11 |
600814 |
Ataxia-telangiectasia-like disorder type 1 |
AR |
MSH2 |
609309 |
Lynch syndrome; Muir-Torre syndrome; mismatch repair cancer syndrome |
AD, AR |
MSH6 |
600678 |
mismatch repair cancer syndrome; endometrial cancer; hereditary nonpolyposis colorectal cancer-5 |
AD, AR |
MTR |
156570 |
homocystinuria-megaloblastic anemia, cblG complementation type; folate-sensitive neural tube defects |
AR |
MTRR |
602568 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type; folate-sensitive neural tube defects |
AR |
MYH9 |
160775 |
Fechtner syndrome; Macrothrombocytopenia and progressive sensorineural deafness; May-Hegglin anomaly; Sebastian syndrome; deafness type 17 |
AD |
NBN |
602667 |
Nijmegen breakage syndrome; Aplastic Anemia; Acute lymphoblastic leukemia |
AR |
NF1 |
613113 |
neurofibromatosis type 1; Neurofibromatosis-Noonan syndrome; Leukemia, juvenile myelomonocytic |
AD |
NHP2 |
606470 |
Dyskeratosis Congenita, Autosomal Recessive, 2 |
AR |
NOP10 |
606471 |
Dyskeratosis Congenita, Autosomal Recessive, 1 |
AR |
NRAS |
164790 |
colorectal cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Neurocutaneous melanosis, somatic; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type IV |
AD |
PALB2 |
610355 |
familial breast-ovarian cancer type 2; Fanconi anemia of complementation group N; Pancreatic cancer, susceptibility to, 3 |
AD |
PARN |
604212 |
Dyskeratosis congenita, autosomal recessive 6; telomere-related pulmonary fibrosis and/or bone marrow failure type 4 |
AD, AR |
PC |
608786 |
pyruvate carboxylase deficiency |
AR |
PDHA1 |
300502 |
Pyruvate dehydrogenase E1-alpha deficiency |
XLD |
PDHX |
608769 |
Lacticacidemia due to PDX1 deficiency |
AR |
PKLR |
609712 |
pyruvate kinase deficiency |
AD, AR |
PMS2 |
600259 |
mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-4 |
AR |
PRF1 |
170280 |
familial hemophagocytic lymphohistiocytosis 2; Lymphoma, non-Hodgkin; Aplastic Anemia |
AR |
PTPN11 |
176876 |
LEOPARD syndrome 1; Noonan syndrome 1; Leukemia, juvenile myelomonocytic |
AD |
PUS1 |
608109 |
myopathy, lactic acidosis and sideroblastic anemia type 1 |
AR |
RAC2 |
602049 |
Neutrophil immunodeficiency syndrome |
|
RAD51C |
602774 |
Fanconi anemia of complementation group O; Breast-ovarian cancer, familial, susceptibility to, 3 |
AR |
RBBP8 |
604124 |
Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 |
AR |
RBM8A |
605313 |
Thrombocytopenia-absent radius syndrome |
AR |
RIT1 |
609591 |
Noonan syndrome 8 |
AD |
RPL11 |
604175 |
Diamond-Blackfan anemia 7 |
AD |
RPL15 |
604174 |
Diamond-Blackfan anemia 12 |
AD |
RPL26 |
603704 |
Diamond-Blackfan anemia 11 |
AD |
RPL27 |
607526 |
|
AD |
RPL35A |
180468 |
Diamond-Blackfan anemia 5 |
AD |
RPL5 |
603634 |
Diamond-Blackfan anemia 6 |
AD |
RPS10 |
603632 |
Diamond-Blackfan anemia 9 |
AD |
RPS17 |
180472 |
Diamond-Blackfan anemia 4 |
AD |
RPS19 |
603474 |
Diamond-Blackfan anemia 1 |
AD |
RPS24 |
602412 |
Diamond-blackfan anemia type 3 |
AD |
RPS26 |
603701 |
Diamond-Blackfan anemia 10 |
AD |
RPS27 |
603702 |
Diamond-Blackfan anemia 17 |
AD |
RPS28 |
603685 |
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
AD |
RPS29 |
603633 |
Diamond-Blackfan anemia 13 |
AD |
RPS7 |
603658 |
Diamond-Blackfan anemia 8 |
AD |
RTEL1 |
608833 |
dyskeratosis congenita; that telomere-related pulmonary fibrosis and/or bone marrow failure type 3 |
AD, AR |
RUNX1 |
151385 |
Platelet disorder, familial, with associated myeloid malignancy; acute myeloid leukemia |
AD |
SAMD9 |
610456 |
normophosphatemic familial tumoral calcinosis; MIRAGE syndrome |
AD, AR |
SBDS |
607444 |
Shwachman-Bodian-Diamond syndrome; Aplastic Anemia |
AR |
SEC23B |
610512 |
congenital dyserythropoietic anemia 2; Cowden syndrome 7 |
AD, AR |
SH2D1A |
300490 |
Lymphoproliferative Syndrome, X-Linked, 1 |
XLR |
SLC19A2 |
603941 |
Thiamine-responsive megaloblastic anemia syndrome |
AR |
SLC19A3 |
606152 |
biotin-thiamine-responsive basal ganglia disease |
AR |
SLC25A19 |
606521 |
Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) |
AR |
SLC25A38 |
610819 |
Anemia, sideroblastic, 2, pyridoxine-refractory |
AR |
SLC4A1 |
109270 |
Autosomal dominant distal renal tubular acidosis; resistance to malaria; Renal tubular acidosis, distal, with hemolytic anemia; Spherocytosis, type 4 |
AD, AR |
SLX4 |
613278 |
Fanconi anemia of complementation group P |
AR |
SPTA1 |
182860 |
Elliptocytosis type 2; Pyropoikilocytosis; Spherocytosis, type 3 |
AD, AR |
SPTB |
182870 |
Spherocytosis, type 2; Elliptocytosis 3 |
AD |
SRP72 |
602122 |
Bone marrow failure, familial |
AD |
STIM1 |
605921 |
Myopathy, tubular aggregate, 1; Immunodeficiency 10 |
AD, AR |
STX11 |
605014 |
Hemophagocytic lymphohistiocytosis, familial, 4 |
AR |
STXBP2 |
601717 |
Hemophagocytic lymphohistiocytosis, familial, 5 |
|
TCN2 |
613441 |
Transcobalamin II deficiency |
AR |
TERT |
187270 |
acute myeloid leukemia; Dyskeratosis congenita 4; Bone marrow failure, telomere-related, 1 |
AD, AR |
TINF2 |
604319 |
Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 |
AD |
TP53 |
191170 |
familial breast-ovarian cancer type 2; colorectal cancer; Hepatocellular Carcinoma; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Osteogenic Sarcoma; Pancreatic Cancer |
AD |
TPK1 |
606370 |
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) |
AR |
TRNT1 |
612907 |
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay |
AR |
UBE2T |
610538 |
Fanconi anemia of complementation group T |
AR |
UNC13D |
608897 |
familial hemophagocytic lymphohistiocytosis 3 |
AR |
VPS13B |
607817 |
Cohen syndrome |
AR |
VPS45 |
610035 |
Severe congenital neutropenia type 5 |
AR |
WAS |
300392 |
Neutropenia, severe congenital, X-linked; Wiskott-Aldrich syndrome; Thrombocytopenia 1 |
XLR |
WRAP53 |
612661 |
Autosomal recessive dyskeratosis congenita type 3 |
AR |
XIAP |
300079 |
X-linked lymphoproliferative disease 2 |
XLR |
XRCC2 |
600375 |
Fanconi anemia, complementation group U |
AR |
YARS2 |
610957 |
Myopathy, lactic acidosis, and sideroblastic anemia 2 |
AR |