Tay-sachs disease | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

Log in to bookmark this disease

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
TAY-SACHS DISEASE	C0039373	SETX	Unknown	—	Disgenet	Amyotrophic lateral sclerosis
TAY-SACHS DISEASE AB VARIANT	MONDO:0010099	GM2A	Unknown	8900233 10364519 1915858 8244332	ClinGen, Disgenet	Sphingolipid metabolism Lysosome Glycosphingolipid metabolism +1 more
TAY-SACHS DISEASE, AB VARIANT	C0268275 MESH:D049290	GM2A	Unknown	—	CTD, Disgenet	Sphingolipid metabolism Lysosome Glycosphingolipid metabolism +1 more
TAY-SACHS DISEASE, AB VARIANT	C0268275 MESH:D049290	HEXA	Unknown	—	Disgenet	Other glycan degradation Various types of N-glycan biosynthesis Amino sugar and nucleotide sugar metabolism +11 more
TAY-SACHS DISEASE, ADULT FORM	309192	HEXA	Unknown	—	Orphanet	Other glycan degradation Various types of N-glycan biosynthesis Amino sugar and nucleotide sugar metabolism +11 more
TAY-SACHS DISEASE, INFANTILE FORM	309178	HEXA	Unknown	—	Orphanet	Other glycan degradation Various types of N-glycan biosynthesis Amino sugar and nucleotide sugar metabolism +11 more
TAY-SACHS DISEASE, JUVENILE FORM	309185	HEXA	Unknown	—	Orphanet	Other glycan degradation Various types of N-glycan biosynthesis Amino sugar and nucleotide sugar metabolism +11 more
TAY-SACHS DISEASE, VARIANT B1	C1848916	HEXA	Unknown	27033294 28739864	Disgenet, ClinGen	Other glycan degradation Various types of N-glycan biosynthesis Amino sugar and nucleotide sugar metabolism +11 more