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 |
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DisGeNET | July 29, 2024 |
Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0008297 | Choanal Atresia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
C0008297 | Choanal Atresia | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
C0008297 | Choanal Atresia | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0008297 | Choanal Atresia | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
C0008297 | Choanal Atresia | GAS1 | 2619 | growth arrest specific 1 | P54826 |
C0008297 | Choanal Atresia | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
C0008309 | Bile duct adenoma | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
C0008311 | Cholangitis | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
C0008311 | Cholangitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
C0008311 | Cholangitis | PLA2G2D | 26279 | phospholipase A2 group IID | Q9UNK4 |
C0008311 | Cholangitis | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
C0008311 | Cholangitis | PLA2G10 | 8399 | phospholipase A2 group X | O15496 |
C0008312 | Primary biliary cirrhosis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
C0008312 | Primary biliary cirrhosis | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
C0008312 | Primary biliary cirrhosis | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
C0008312 | Primary biliary cirrhosis | GLB1 | 2720 | galactosidase beta 1 | P16278 |
C0008312 | Primary biliary cirrhosis | MANBA | 4126 | mannosidase beta | O00462 |
C0008312 | Primary biliary cirrhosis | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
C0008312 | Primary biliary cirrhosis | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
C0008312 | Primary biliary cirrhosis | HK1 | 3098 | hexokinase 1 | P19367 |
C0008312 | Primary biliary cirrhosis | UGT2B4 | 7363 | UDP glucuronosyltransferase family 2 member B4 | P06133 |
C0008312 | Primary biliary cirrhosis | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
C0008312 | Primary biliary cirrhosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C0008312 | Primary biliary cirrhosis | FH | 2271 | fumarate hydratase | P07954 |
C0008312 | Primary biliary cirrhosis | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
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Last updated: August 19, 2024