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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 |
|---|---|---|---|---|---|
| C4082937 | Necrotizing enterocolitis in fetus OR newborn | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C4082937 | Necrotizing enterocolitis in fetus OR newborn | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C4082937 | Necrotizing enterocolitis in fetus OR newborn | SFTPC | 6440 | surfactant protein C | P11686 |
| C4082305 | Deaf Mutism | TMTC2 | 160335 | transmembrane O-mannosyltransferase targeting cadherins 2 | Q8N394 |
| C4082304 | Oligodontia | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C4082304 | Oligodontia | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C4082299 | Bulbar palsy | ARSA | 410 | arylsulfatase A | P15289 |
| C4082299 | Bulbar palsy | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C4082299 | Bulbar palsy | AGRN | 375790 | agrin | O00468 |
| 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 |
| C4082173 | Porencephaly | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| 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 |
| C4049328 | Renal medullary carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4049090 | Alopecia, Androgenetic, 1 | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C4049006 | Selective immunoglobulin A deficiency | AGA | 175 | aspartylglucosaminidase | P20933 |
| C4049006 | Selective immunoglobulin A deficiency | SDC1 | 6382 | syndecan 1 | P18827 |
| C4049006 | Selective immunoglobulin A deficiency | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C4049005 | Cataract, total congenital with posterior sutural opacities in Heterozygotes | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C4048705 | Hypermethioninemia | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C4048328 | cervical cancer | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C4048328 | cervical cancer | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
