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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 |
|---|---|---|---|---|---|
| C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0752282 | Congenital Structural Myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0752282 | Congenital Structural Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0752282 | Congenital Structural Myopathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C1268935 | Congenital Thrombotic Thrombocytopenic Purpura | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1384583 | Congenital absence of germinal epithelium of testes | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C1384583 | Congenital absence of germinal epithelium of testes | PGAM1 | 5223 | phosphoglycerate mutase 1 | P18669 |
| C1384583 | Congenital absence of germinal epithelium of testes | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C1384583 | Congenital absence of germinal epithelium of testes | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C1384583 | Congenital absence of germinal epithelium of testes | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C1384583 | Congenital absence of germinal epithelium of testes | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1384583 | Congenital absence of germinal epithelium of testes | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C1384583 | Congenital absence of germinal epithelium of testes | TEX101 | 83639 | testis expressed 101 | Q9BY14 |
| C1384583 | Congenital absence of germinal epithelium of testes | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1384583 | Congenital absence of germinal epithelium of testes | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C1384583 | Congenital absence of germinal epithelium of testes | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1384583 | Congenital absence of germinal epithelium of testes | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1384583 | Congenital absence of germinal epithelium of testes | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0542519 | Congenital absence of kidney | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0542519 | Congenital absence of kidney | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C1609433 | Congenital absence of kidneys syndrome | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C1609433 | Congenital absence of kidneys syndrome | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1609433 | Congenital absence of kidneys syndrome | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C1609433 | Congenital absence of kidneys syndrome | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C1609433 | Congenital absence of kidneys syndrome | GAS1 | 2619 | growth arrest specific 1 | P54826 |
