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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 |
|---|---|---|---|---|---|
| C0852949 | Arteriopathic disease | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0852949 | Arteriopathic disease | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0852949 | Arteriopathic disease | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0853105 | Penis carcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0853105 | Penis carcinoma | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0853105 | Penis carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0853105 | Penis carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0853105 | Penis carcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0853105 | Penis carcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0853193 | Bipolar I disorder | ST8SIA2 | 8128 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | Q92186 |
| C0853193 | Bipolar I disorder | CDS1 | 1040 | CDP-diacylglycerol synthase 1 | Q92903 |
| C0853193 | Bipolar I disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0853193 | Bipolar I disorder | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0853193 | Bipolar I disorder | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0853193 | Bipolar I disorder | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0854248 | Pneumonia due to Gram negative bacteria | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0854723 | Retinal Dystrophies | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0854723 | Retinal Dystrophies | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0854723 | Retinal Dystrophies | FKTN | 2218 | fukutin | O75072 |
| C0854723 | Retinal Dystrophies | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0854723 | Retinal Dystrophies | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0854723 | Retinal Dystrophies | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0854723 | Retinal Dystrophies | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0854723 | Retinal Dystrophies | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0854723 | Retinal Dystrophies | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
