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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 |
|---|---|---|---|---|---|
| C0029408 | Degenerative polyarthritis | TKTL1 | 8277 | transketolase like 1 | P51854 |
| 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 |
| C0154671 | Degenerative brain disorder | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0270715 | Degenerative Diseases, Central Nervous System | AGPAT3 | 56894 | 1-acylglycerol-3-phosphate O-acyltransferase 3 | Q9NRZ7 |
| C0270715 | Degenerative Diseases, Central Nervous System | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0270715 | Degenerative Diseases, Central Nervous System | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| 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 |
| C0340968 | Deficiency of pyruvate kinase | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0340968 | Deficiency of pyruvate kinase | HK1 | 3098 | hexokinase 1 | P19367 |
