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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 |
|---|---|---|---|---|---|
| C0039446 | Telangiectasis | TALDO1 | 6888 | transaldolase 1 | P37837 |
| C0039446 | Telangiectasis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4551861 | Telangiectasia, Hereditary Hemorrhagic, Type 1 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C4551861 | Telangiectasia, Hereditary Hemorrhagic, Type 1 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C4551861 | Telangiectasia, Hereditary Hemorrhagic, Type 1 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C4551861 | Telangiectasia, Hereditary Hemorrhagic, Type 1 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1848916 | Tay-Sachs Disease, Variant B1 | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1848916 | Tay-Sachs Disease, Variant B1 | ARSA | 410 | arylsulfatase A | P15289 |
| C1848913 | Tay-Sachs Disease, Juvenile | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0268275 | Tay-Sachs Disease, AB Variant | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0268275 | Tay-Sachs Disease, AB Variant | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0268275 | Tay-Sachs Disease, AB Variant | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0268275 | Tay-Sachs Disease, AB Variant | OGA | 10724 | O-GlcNAcase | O60502 |
| C0039373 | Tay-Sachs Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0039373 | Tay-Sachs Disease | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0039373 | Tay-Sachs Disease | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0039373 | Tay-Sachs Disease | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0039373 | Tay-Sachs Disease | ARSA | 410 | arylsulfatase A | P15289 |
| C0039373 | Tay-Sachs Disease | OGA | 10724 | O-GlcNAcase | O60502 |
| C0039373 | Tay-Sachs Disease | NEU3 | 10825 | neuraminidase 3 | Q9UQ49 |
| C0039373 | Tay-Sachs Disease | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C1956413 | Taussig-Bing Anomaly | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C0949664 | Tauopathies | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0949664 | Tauopathies | OGA | 10724 | O-GlcNAcase | O60502 |
| C0949664 | Tauopathies | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
