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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C1290344 | Nonspecific interstitial pneumonia | SFTPC | 6440 | surfactant protein C | P11686 |
| C1291230 | 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C1291245 | Cortisone reductase deficiency | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C1291245 | Cortisone reductase deficiency | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C1291245 | Cortisone reductase deficiency | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1291490 | Hyaluronidase Deficiency | HYAL1 | 3373 | hyaluronidase 1 | Q12794 |
| C1291490 | Hyaluronidase Deficiency | HYAL2 | 8692 | hyaluronidase 2 | Q12891 |
