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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C4303761 | Familial thrombocytosis | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C4303860 | Craniofacial ulnar renal syndrome | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| 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 |
| C4304832 | Primary pigmented nodular adrenocortical disease | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C4310624 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 | ACOX2 | 8309 | acyl-CoA oxidase 2 | Q99424 |
| C4310654 | MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C4310666 | SPERMATOGENIC FAILURE 17 | PLCZ1 | 89869 | phospholipase C zeta 1 | Q86YW0 |
| C4310779 | SPERMATOGENIC FAILURE 15 | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C4310809 | ANTERIOR SEGMENT DYSGENESIS 5 | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
