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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 |
|---|---|---|---|---|---|
| C4048158 | Convulsions | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C4048158 | Convulsions | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C4048158 | Convulsions | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C4048158 | Convulsions | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C4048158 | Convulsions | ME1 | 4199 | malic enzyme 1 | P48163 |
| C4048158 | Convulsions | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0009946 | Conversion disorder | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0009946 | Conversion disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0009946 | Conversion disorder | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0009946 | Conversion disorder | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0009946 | Conversion disorder | PRNP | 5621 | prion protein | P04156 |
| C0009946 | Conversion disorder | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0009946 | Conversion disorder | PRNP | 5621 | prion protein | F7VJQ1 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | FUT11 | 170384 | fucosyltransferase 11 | Q495W5 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | MGAT5B | 146664 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B | Q3V5L5 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | MGAT5 | 4249 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase | Q09328 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | ST3GAL2 | 6483 | ST3 beta-galactoside alpha-2,3-sialyltransferase 2 | Q16842 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
