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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 |
|---|---|---|---|---|---|
| C1141890 | Congenital long QT syndrome | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0495640 | Congenital malformation syndromes involving early overgrowth | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1261470 | Congenital meningocele | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C1261470 | Congenital meningocele | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1261470 | Congenital meningocele | FKTN | 2218 | fukutin | O75072 |
| C1261470 | Congenital meningocele | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1261470 | Congenital meningocele | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C1261470 | Congenital meningocele | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C1261470 | Congenital meningocele | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1261470 | Congenital meningocele | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C1261470 | Congenital meningocele | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C1261470 | Congenital meningocele | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0699743 | Congenital muscular dystrophy (disorder) | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0699743 | Congenital muscular dystrophy (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0699743 | Congenital muscular dystrophy (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0699743 | Congenital muscular dystrophy (disorder) | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0699743 | Congenital muscular dystrophy (disorder) | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0699743 | Congenital muscular dystrophy (disorder) | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0699743 | Congenital muscular dystrophy (disorder) | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0699743 | Congenital muscular dystrophy (disorder) | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0699743 | Congenital muscular dystrophy (disorder) | AGK | 55750 | acylglycerol kinase | Q53H12 |
