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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 |
|---|---|---|---|---|---|
| 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 |
| C3149631 | MELORHEOSTOSIS, ISOLATED | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C3149631 | MELORHEOSTOSIS, ISOLATED | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| 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 |
| C3150275 | COMPLEMENT COMPONENT 2 DEFICIENCY | OTOA | 146183 | otoancorin | Q7RTW8 |
| C3150275 | COMPLEMENT COMPONENT 2 DEFICIENCY | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| 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 |
| C3150411 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3150412 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C3150412 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3150412 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 | FKTN | 2218 | fukutin | O75072 |
| C3150412 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
