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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 |
|---|---|---|---|---|---|
| C4303860 | Craniofacial ulnar renal syndrome | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C4303860 | Craniofacial ulnar renal syndrome | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C4303761 | Familial thrombocytosis | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C4290140 | recurrent myocardial infarction | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C4290140 | recurrent myocardial infarction | ARSA | 410 | arylsulfatase A | P15289 |
| C4290140 | recurrent myocardial infarction | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C4290140 | recurrent myocardial infarction | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C4290140 | recurrent myocardial infarction | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C4290140 | recurrent myocardial infarction | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | FKTN | 2218 | fukutin | O75072 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C4284594 | BAND HETEROTOPIA | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C4282398 | Sialidase deficiency | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C4282398 | Sialidase deficiency | NEU1 | 4758 | neuraminidase 1 | Q99519 |
