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 |
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DisGeNET | July 29, 2024 |
Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C1285162 | Degenerative disorder | GAA | 2548 | glucosidase alpha, acid | P10253 |
C1285162 | Degenerative disorder | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
C1285162 | Degenerative disorder | CHIT1 | 1118 | chitinase 1 | Q13231 |
C1285162 | Degenerative disorder | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
C1285162 | Degenerative disorder | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
C1285162 | Degenerative disorder | LPL | 4023 | lipoprotein lipase | P06858 |
C1285162 | Degenerative disorder | STS | 412 | steroid sulfatase | P08842 |
C1285162 | Degenerative disorder | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
C1285162 | Degenerative disorder | PRNP | 5621 | prion protein | P04156 |
C1285162 | Degenerative disorder | CAT | 847 | catalase | P04040 |
C1285162 | Degenerative disorder | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C1285162 | Degenerative disorder | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
C1285162 | Degenerative disorder | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C1285162 | Degenerative disorder | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C1285162 | Degenerative disorder | PRNP | 5621 | prion protein | F7VJQ1 |
C1283601 | Deficiency of sulfatase | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
C1283601 | Deficiency of sulfatase | ARSG | 22901 | arylsulfatase G | Q96EG1 |
C1283601 | Deficiency of sulfatase | STS | 412 | steroid sulfatase | P08842 |
C1282975 | von Willebrand Disease, Type 2N | OTOA | 146183 | otoancorin | Q7RTW8 |
C1282975 | von Willebrand Disease, Type 2N | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
C1282975 | von Willebrand Disease, Type 2N | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C1282916 | Secondary Raynaud's phenomenon | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
C1282916 | Secondary Raynaud's phenomenon | CNTN3 | 5067 | contactin 3 | Q9P232 |
C1282359 | Ocular Cicatricial Pemphigoid | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
C1280798 | Von Willebrand disease, platelet type | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
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Last updated: August 19, 2024