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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0015625 | Fanconi Anemia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0015625 | Fanconi Anemia | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0015625 | Fanconi Anemia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0015625 | Fanconi Anemia | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0015625 | Fanconi Anemia | ME1 | 4199 | malic enzyme 1 | P48163 |
| C0015625 | Fanconi Anemia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0015625 | Fanconi Anemia | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0015625 | Fanconi Anemia | CD33 | 945 | CD33 molecule | P20138 |
| C0015625 | Fanconi Anemia | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0015625 | Fanconi Anemia | ADH5 | 128 | alcohol dehydrogenase 5 (class III), chi polypeptide | P11766 |
| C0015625 | Fanconi Anemia | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
| C0015625 | Fanconi Anemia | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0015625 | Fanconi Anemia | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0015625 | Fanconi Anemia | CD48 | 962 | CD48 molecule | P09326 |
| C0015625 | Fanconi Anemia | NEIL3 | 55247 | nei like DNA glycosylase 3 | Q8TAT5 |
| C0015625 | Fanconi Anemia | LPL | 4023 | lipoprotein lipase | P06858 |
| C0015625 | Fanconi Anemia | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C0015625 | Fanconi Anemia | CAT | 847 | catalase | P04040 |
| C4706552 | Familial vesicoureteral reflux | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C4303761 | Familial thrombocytosis | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | VCAN | 1462 | versican | P13611 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
