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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 |
|---|---|---|---|---|---|
| C0410538 | Pseudoachondroplasia | ACAN | 176 | aggrecan | P16112 |
| C0410538 | Pseudoachondroplasia | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0410530 | Metachondromatosis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0410530 | Metachondromatosis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0410530 | Metachondromatosis | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0410529 | Hypochondroplasia (disorder) | GALNT2 | 2590 | polypeptide N-acetylgalactosaminyltransferase 2 | Q10471 |
| C0410422 | Chronic multifocal osteomyelitis | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0410422 | Chronic multifocal osteomyelitis | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0410422 | Chronic multifocal osteomyelitis | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0410422 | Chronic multifocal osteomyelitis | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0410207 | Tubular Aggregate Myopathy | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0410207 | Tubular Aggregate Myopathy | OVGP1 | 5016 | oviductal glycoprotein 1 | Q12889 |
| C0410207 | Tubular Aggregate Myopathy | CLEC10A | 10462 | C-type lectin domain containing 10A | Q8IUN9 |
| C0410207 | Tubular Aggregate Myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0410207 | Tubular Aggregate Myopathy | SIRT4 | 23409 | sirtuin 4 | Q9Y6E7 |
| C0410207 | Tubular Aggregate Myopathy | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0410207 | Tubular Aggregate Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0410203 | X-linked centronuclear myopathy | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0410203 | X-linked centronuclear myopathy | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0410203 | X-linked centronuclear myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0410203 | X-linked centronuclear myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0410203 | X-linked centronuclear myopathy | MTMR1 | 8776 | myotubularin related protein 1 | Q13613 |
| C0410203 | X-linked centronuclear myopathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0410189 | Muscular Dystrophy, Emery-Dreifuss | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0410180 | Eichsfeld type congenital muscular dystrophy | FKTN | 2218 | fukutin | O75072 |
