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
Displaying entries 59001 - 59025 of 62743 in total
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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