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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 |
|---|---|---|---|---|---|
| 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 |
| C1853942 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C1853942 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET | GPD2 | 2820 | glycerol-3-phosphate dehydrogenase 2 | P43304 |
| C1854065 | LATE-ONSET RETINAL DEGENERATION (disorder) | HKDC1 | 80201 | hexokinase domain containing 1 | Q2TB90 |
| C1854181 | FIBROMATOSIS, GINGIVAL, 2 | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C1854245 | Basal cell carcinoma, multiple | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C1854310 | Hypotrichosis simplex | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C1854310 | Hypotrichosis simplex | LSS | 4047 | lanosterol synthase | P48449 |
| C1854336 | PARAGANGLIOMAS 3 | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C1854416 | MACROCEPHALY/AUTISM SYNDROME | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1854449 | Neuropathy, hereditary motor and sensory, Russe type | HK1 | 3098 | hexokinase 1 | P19367 |
| C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
