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 |
---|---|---|---|---|---|
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 |
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 |
C1848913 | Tay-Sachs Disease, Juvenile | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
C1848916 | Tay-Sachs Disease, Variant B1 | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
C1848916 | Tay-Sachs Disease, Variant B1 | ARSA | 410 | arylsulfatase A | P15289 |
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 |
C0039446 | Telangiectasis | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
C0039446 | Telangiectasis | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
C0039446 | Telangiectasis | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0039446 | Telangiectasis | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
C0039446 | Telangiectasis | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
C0039446 | Telangiectasis | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
C0039446 | Telangiectasis | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
C0039446 | Telangiectasis | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
C0039446 | Telangiectasis | TALDO1 | 6888 | transaldolase 1 | P37837 |
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Last updated: August 19, 2024