DisGeNET - a database of gene-disease associations

Tay-Sachs Disease, C0039373

Variant: rs762060470 ×

Source: CLINVAR ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs762060470

HEXA

0.700

CausalMutation

CLINVAR

Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

27896118

2014

dbSNP:

rs762060470

HEXA

0.700

CausalMutation

CLINVAR

GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

22789865

2012

dbSNP:

rs762060470

HEXA

0.700

CausalMutation

CLINVAR

Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.

22441121

2012

dbSNP:

rs762060470

HEXA

0.700

CausalMutation

CLINVAR

Rapid identification of HEXA mutations in Tay-Sachs patients.

20100466

2010

dbSNP:

rs762060470

HEXA

0.700

CausalMutation

CLINVAR

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.

1837283

1991