DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Tay-Sachs Disease ×

Variant: rs387906311 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387906311

HEXA

CUI:	C0039373
Disease:	Tay-Sachs Disease

Tay-Sachs Disease

0.700

GeneticVariation

CLINVAR

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

17015493

2006

dbSNP:

rs387906311

HEXA

CUI:	C0039373
Disease:	Tay-Sachs Disease

Tay-Sachs Disease

0.700

GeneticVariation

CLINVAR

Molecular epidemiology of Tay-Sachs disease in Europe.

7858168

1994

dbSNP:

rs387906311

HEXA

CUI:	C0039373
Disease:	Tay-Sachs Disease

Tay-Sachs Disease

0.700

GeneticVariation

CLINVAR

Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.

8490625

1993