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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 | 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 |
| C4048195 | Autosomal dominant hypocalcemia | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C4048195 | Autosomal dominant hypocalcemia | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
| C4048195 | Autosomal dominant hypocalcemia | ADH1A | 124 | alcohol dehydrogenase 1A (class I), alpha polypeptide | P07327 |
| C4048196 | beta-Mannosidosis | MANBA | 4126 | mannosidase beta | O00462 |
| C4048196 | beta-Mannosidosis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C4048306 | Multiple endocrine neoplasia Type 2 | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C4048306 | Multiple endocrine neoplasia Type 2 | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C4048306 | Multiple endocrine neoplasia Type 2 | FH | 2271 | fumarate hydratase | P07954 |
| C4048306 | Multiple endocrine neoplasia Type 2 | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C4048306 | Multiple endocrine neoplasia Type 2 | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C4048306 | Multiple endocrine neoplasia Type 2 | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C4048306 | Multiple endocrine neoplasia Type 2 | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C4048306 | Multiple endocrine neoplasia Type 2 | GFRA4 | 64096 | GDNF family receptor alpha 4 | Q9GZZ7 |
| C4048306 | Multiple endocrine neoplasia Type 2 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4048328 | cervical cancer | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C4048328 | cervical cancer | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C4048328 | cervical cancer | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C4048328 | cervical cancer | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C4048328 | cervical cancer | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C4048328 | cervical cancer | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C4048328 | cervical cancer | B4GALT3 | 8703 | beta-1,4-galactosyltransferase 3 | O60512 |
