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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 |
|---|---|---|---|---|---|
| C1621920 | Intermediate Maple Syrup Urine Disease | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C1621920 | Intermediate Maple Syrup Urine Disease | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C1619700 | RENAL ADYSPLASIA | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| 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 |
| C1609433 | Congenital absence of kidneys syndrome | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1579029 | Chronic uremia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1571983 | Involutional paraphrenia | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C1571983 | Involutional paraphrenia | CAT | 847 | catalase | P04040 |
| C1571983 | Involutional paraphrenia | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C1569637 | Adenocarcinoma, Endometrioid | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C1569637 | Adenocarcinoma, Endometrioid | ACSL5 | 51703 | acyl-CoA synthetase long chain family member 5 | Q9ULC5 |
| C1569637 | Adenocarcinoma, Endometrioid | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1569637 | Adenocarcinoma, Endometrioid | SIRT4 | 23409 | sirtuin 4 | Q9Y6E7 |
| C1569637 | Adenocarcinoma, Endometrioid | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1569637 | Adenocarcinoma, Endometrioid | MSLN | 10232 | mesothelin | Q13421 |
| C1569637 | Adenocarcinoma, Endometrioid | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1569637 | Adenocarcinoma, Endometrioid | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1569637 | Adenocarcinoma, Endometrioid | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1568868 | Oral Mucositis | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1568363 | Tendinosis | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C1568363 | Tendinosis | VCAN | 1462 | versican | P13611 |
