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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 |
|---|---|---|---|---|---|
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | LYZ | 4069 | lysozyme | P61626 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | FASN | 2194 | fatty acid synthase | P49327 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C2931689 | Dystrophia myotonica 2 | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C2931689 | Dystrophia myotonica 2 | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C2931689 | Dystrophia myotonica 2 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C2931689 | Dystrophia myotonica 2 | LPL | 4023 | lipoprotein lipase | P06858 |
| C2931689 | Dystrophia myotonica 2 | SELE | 6401 | selectin E | P16581 |
| C2931689 | Dystrophia myotonica 2 | SELP | 6403 | selectin P | P16109 |
| C2931689 | Dystrophia myotonica 2 | SI | 6476 | sucrase-isomaltase | P14410 |
| C2931689 | Dystrophia myotonica 2 | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C2931689 | Dystrophia myotonica 2 | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C2931689 | Dystrophia myotonica 2 | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C2931689 | Dystrophia myotonica 2 | GCK | 2645 | glucokinase | P35557 |
| C2931689 | Dystrophia myotonica 2 | FASN | 2194 | fatty acid synthase | P49327 |
| C2931689 | Dystrophia myotonica 2 | MTMR1 | 8776 | myotubularin related protein 1 | Q13613 |
| C0752206 | Dystonias, Sporadic | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0752205 | Dystonia, Secondary | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0752203 | Dystonia, Primary | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
