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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 |
|---|---|---|---|---|---|
| C0854723 | Retinal Dystrophies | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0854723 | Retinal Dystrophies | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0854248 | Pneumonia due to Gram negative bacteria | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| 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 |
| 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 |
| C0852949 | Arteriopathic disease | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0852949 | Arteriopathic disease | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0852949 | Arteriopathic disease | ARSA | 410 | arylsulfatase A | P15289 |
| C0852949 | Arteriopathic disease | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C0852949 | Arteriopathic disease | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0852949 | Arteriopathic disease | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0852949 | Arteriopathic disease | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0852949 | Arteriopathic disease | SELE | 6401 | selectin E | P16581 |
| C0852949 | Arteriopathic disease | RENBP | 5973 | renin binding protein | P51606 |
| C0852949 | Arteriopathic disease | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
