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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 |
|---|---|---|---|---|---|
| C0334082 | NEVUS, EPIDERMAL (disorder) | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0334082 | NEVUS, EPIDERMAL (disorder) | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0334082 | NEVUS, EPIDERMAL (disorder) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3808991 | NGLY1 deficiency | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C3808991 | NGLY1 deficiency | ENGASE | 64772 | endo-beta-N-acetylglucosaminidase | Q8NFI3 |
| C3808991 | NGLY1 deficiency | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C1850362 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1848172 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1853926 | NONAKA MYOPATHY | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C1853926 | NONAKA MYOPATHY | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1853926 | NONAKA MYOPATHY | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C1853926 | NONAKA MYOPATHY | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C1853926 | NONAKA MYOPATHY | DCN | 1634 | decorin | P07585 |
| C1853926 | NONAKA MYOPATHY | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1853926 | NONAKA MYOPATHY | PRNP | 5621 | prion protein | P04156 |
| C1853926 | NONAKA MYOPATHY | CAT | 847 | catalase | P04040 |
| C1853926 | NONAKA MYOPATHY | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1853926 | NONAKA MYOPATHY | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C1853926 | NONAKA MYOPATHY | RENBP | 5973 | renin binding protein | P51606 |
| C1853926 | NONAKA MYOPATHY | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C1853926 | NONAKA MYOPATHY | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C1853926 | NONAKA MYOPATHY | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1853926 | NONAKA MYOPATHY | PRNP | 5621 | prion protein | F7VJQ1 |
| C1853926 | NONAKA MYOPATHY | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1858725 | NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1 | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
