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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 |
|---|---|---|---|---|---|
| C0013473 | Eating Disorders | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0013473 | Eating Disorders | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0013473 | Eating Disorders | GPCPD1 | 56261 | glycerophosphocholine phosphodiesterase 1 | Q9NPB8 |
| C0013473 | Eating Disorders | ARSD | 414 | arylsulfatase D | P51689 |
| C0270855 | Early myoclonic encephalopathy | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0270855 | Early myoclonic encephalopathy | AMT | 275 | aminomethyltransferase | P48728 |
| C0342548 | Early menarche | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | GPC3 | 2719 | glypican 3 | P51654 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | HK2 | 3099 | hexokinase 2 | P52789 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0349530 | Early gastric cancer | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0349530 | Early gastric cancer | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0349530 | Early gastric cancer | MDGA2 | 161357 | MAM domain containing glycosylphosphatidylinositol anchor 2 | Q7Z553 |
| C0349530 | Early gastric cancer | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0349530 | Early gastric cancer | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0349530 | Early gastric cancer | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0349530 | Early gastric cancer | FASN | 2194 | fatty acid synthase | P49327 |
| C0349530 | Early gastric cancer | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
