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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 |
|---|---|---|---|---|---|
| C0007758 | Cerebellar Ataxia | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0007758 | Cerebellar Ataxia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0007758 | Cerebellar Ataxia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0007758 | Cerebellar Ataxia | PRNP | 5621 | prion protein | F7VJQ1 |
| C0175709 | Centronuclear myopathy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0175709 | Centronuclear myopathy | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0175709 | Centronuclear myopathy | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0175709 | Centronuclear myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0175709 | Centronuclear myopathy | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C0175709 | Centronuclear myopathy | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0175709 | Centronuclear myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0175709 | Centronuclear myopathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0154841 | Central retinal vein occlusion | HPSE | 10855 | heparanase | Q9Y251 |
| C0154841 | Central retinal vein occlusion | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0154841 | Central retinal vein occlusion | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0154841 | Central retinal vein occlusion | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0154841 | Central retinal vein occlusion | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0154841 | Central retinal vein occlusion | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0154841 | Central retinal vein occlusion | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0700095 | Central neuroblastoma | MGAT5B | 146664 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B | Q3V5L5 |
| C0700095 | Central neuroblastoma | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C0700095 | Central neuroblastoma | EXTL1 | 2134 | exostosin like glycosyltransferase 1 | Q92935 |
| C0700095 | Central neuroblastoma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0700095 | Central neuroblastoma | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0700095 | Central neuroblastoma | GCNT1 | 2650 | glucosaminyl (N-acetyl) transferase 1 | Q02742 |
