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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 |
|---|---|---|---|---|---|
| C3150275 | COMPLEMENT COMPONENT 2 DEFICIENCY | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C3150275 | COMPLEMENT COMPONENT 2 DEFICIENCY | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C3149631 | MELORHEOSTOSIS, ISOLATED | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C3149631 | MELORHEOSTOSIS, ISOLATED | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2981150 | Uranostaphyloschisis | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C2981150 | Uranostaphyloschisis | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C2981150 | Uranostaphyloschisis | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C2981150 | Uranostaphyloschisis | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C2981150 | Uranostaphyloschisis | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C2981150 | Uranostaphyloschisis | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C2981150 | Uranostaphyloschisis | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C2981150 | Uranostaphyloschisis | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C2981140 | Glaucoma of childhood | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C2981140 | Glaucoma of childhood | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C2981140 | Glaucoma of childhood | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C2981140 | Glaucoma of childhood | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C2981140 | Glaucoma of childhood | ARSD | 414 | arylsulfatase D | P51689 |
| C2973787 | Coxiella burnetii Infection | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C2973787 | Coxiella burnetii Infection | LSS | 4047 | lanosterol synthase | P48449 |
