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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 |
|---|---|---|---|---|---|
| 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 |
| C4048196 | beta-Mannosidosis | MANBA | 4126 | mannosidase beta | O00462 |
| C4048196 | beta-Mannosidosis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| 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 |
| C4048158 | Convulsions | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C4048158 | Convulsions | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C4048158 | Convulsions | ENO2 | 2026 | enolase 2 | P09104 |
| C4048158 | Convulsions | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C4048158 | Convulsions | CD38 | 952 | CD38 molecule | P28907 |
| C4048158 | Convulsions | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C4048158 | Convulsions | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C4048158 | Convulsions | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C4048158 | Convulsions | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C4048158 | Convulsions | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C4048158 | Convulsions | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
