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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 |
|---|---|---|---|---|---|
| C0024776 | Maple Syrup Urine Disease | UMOD | 7369 | uromodulin | P07911 |
| C0024776 | Maple Syrup Urine Disease | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0024776 | Maple Syrup Urine Disease | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0751285 | Maple Syrup Urine Disease, Thiamine Responsive | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0751285 | Maple Syrup Urine Disease, Thiamine Responsive | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0751285 | Maple Syrup Urine Disease, Thiamine Responsive | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C1855369 | Maple Syrup Urine Disease, Type IA | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C2930990 | Maple syrup urine disease, type 1B | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0086588 | Marasmus | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0024796 | Marfan Syndrome | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0024796 | Marfan Syndrome | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C0024796 | Marfan Syndrome | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0024796 | Marfan Syndrome | CD109 | 135228 | CD109 molecule | Q6YHK3 |
| C0024796 | Marfan Syndrome | VCAN | 1462 | versican | P13611 |
| C0024796 | Marfan Syndrome | DCN | 1634 | decorin | P07585 |
| C0024796 | Marfan Syndrome | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0024796 | Marfan Syndrome | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0024796 | Marfan Syndrome | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0024796 | Marfan Syndrome | CAT | 847 | catalase | P04040 |
| C0024796 | Marfan Syndrome | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0024796 | Marfan Syndrome | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0024796 | Marfan Syndrome | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0024796 | Marfan Syndrome | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0024796 | Marfan Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0024796 | Marfan Syndrome | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
