Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0007758 | Cerebellar Ataxia | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0007758 | Cerebellar Ataxia | GALC | 2581 | galactosylceramidase | P54803 |
| C0007758 | Cerebellar Ataxia | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0007758 | Cerebellar Ataxia | ARSA | 410 | arylsulfatase A | P15289 |
| C0007758 | Cerebellar Ataxia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0007758 | Cerebellar Ataxia | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0007758 | Cerebellar Ataxia | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0007758 | Cerebellar Ataxia | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0007758 | Cerebellar Ataxia | ENO2 | 2026 | enolase 2 | P09104 |
| C0007758 | Cerebellar Ataxia | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0007758 | Cerebellar Ataxia | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
