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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 |
|---|---|---|---|---|---|
| C4049090 | Alopecia, Androgenetic, 1 | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C4049328 | Renal medullary carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4076240 | Chronic kidney disease mineral and bone disorder | KL | 9365 | klotho | Q9UEF7 |
| C4076240 | Chronic kidney disease mineral and bone disorder | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C4082173 | Porencephaly | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C4082197 | Charcot-Marie-Tooth disease type 4 | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C4082197 | Charcot-Marie-Tooth disease type 4 | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C4082197 | Charcot-Marie-Tooth disease type 4 | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C4082197 | Charcot-Marie-Tooth disease type 4 | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C4082299 | Bulbar palsy | ARSA | 410 | arylsulfatase A | P15289 |
| C4082299 | Bulbar palsy | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C4082299 | Bulbar palsy | AGRN | 375790 | agrin | O00468 |
| C4082304 | Oligodontia | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C4082304 | Oligodontia | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C4082305 | Deaf Mutism | TMTC2 | 160335 | transmembrane O-mannosyltransferase targeting cadherins 2 | Q8N394 |
| C4082937 | Necrotizing enterocolitis in fetus OR newborn | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C4082937 | Necrotizing enterocolitis in fetus OR newborn | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C4082937 | Necrotizing enterocolitis in fetus OR newborn | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C4082937 | Necrotizing enterocolitis in fetus OR newborn | FCN1 | 2219 | ficolin 1 | O00602 |
| C4082937 | Necrotizing enterocolitis in fetus OR newborn | ACACB | 32 | acetyl-CoA carboxylase beta | O00763 |
| C4082937 | Necrotizing enterocolitis in fetus OR newborn | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C4082937 | Necrotizing enterocolitis in fetus OR newborn | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C4082937 | Necrotizing enterocolitis in fetus OR newborn | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C4082937 | Necrotizing enterocolitis in fetus OR newborn | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C4082937 | Necrotizing enterocolitis in fetus OR newborn | SELE | 6401 | selectin E | P16581 |
