DisGeNET - a database of gene-disease associations

Tay-Sachs Disease, C0039373

Gene: HEXA ×

Source: ALL

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:

rs121907966

HEXA

0.810

GeneticVariation

CLINVAR

Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

16088929

2005

dbSNP:

rs121907966

HEXA

0.810

GeneticVariation

CLINVAR

Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

14566483

2003

dbSNP:

rs121907966

HEXA

0.810

GeneticVariation

UNIPROT

Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

14566483

2003

dbSNP:

rs121907971

HEXA

0.810

GeneticVariation

UNIPROT

Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

14566483

2003

dbSNP:

rs121907966

HEXA

0.810

GeneticVariation

UNIPROT

W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.

9603435

1998

dbSNP:

rs121907971

HEXA

0.810

GeneticVariation

UNIPROT

W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.

9603435

1998

dbSNP:

rs121907966

HEXA

0.810

GeneticVariation

UNIPROT

Tay-Sachs disease and HEXA mutations among Moroccan Jews.

9338583

1997

dbSNP:

rs121907966

HEXA

0.810

GeneticVariation

UNIPROT

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

9150157

1997

dbSNP:

rs121907966

HEXA

0.810

GeneticVariation

UNIPROT

Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

9401008

1997

dbSNP:

rs121907966

HEXA

0.810

GeneticVariation

BEFREE

Over 72 mutations have been identified in the HEXA gene of which only four (T538C, A590C, G805A, and C1495T) are believed to cause a chronic form of Tay-Sachs disease (TSD).

9272736

1997

dbSNP:

rs121907971

HEXA

0.810

GeneticVariation

UNIPROT

Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

9401008

1997

dbSNP:

rs121907971

HEXA

0.810

GeneticVariation

UNIPROT

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

9150157

1997

dbSNP:

rs121907971

HEXA

0.810

GeneticVariation

UNIPROT

Tay-Sachs disease and HEXA mutations among Moroccan Jews.

9338583

1997

dbSNP:

rs121907966

HEXA

0.810

GeneticVariation

UNIPROT

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.

8757036

1996

dbSNP:

rs121907971

HEXA

0.810

GeneticVariation

UNIPROT

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.

8757036

1996

dbSNP:

rs121907966

HEXA

0.810

GeneticVariation

UNIPROT

Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.

7717398

1995

dbSNP:

rs121907966

HEXA

0.810

GeneticVariation

UNIPROT

GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.

8581357

1995

dbSNP:

rs121907971

HEXA

0.810

GeneticVariation

UNIPROT

Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.

7717398

1995

dbSNP:

rs121907971

HEXA

0.810

GeneticVariation

UNIPROT

GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.

8581357

1995

dbSNP:

rs121907966

HEXA

0.810

GeneticVariation

UNIPROT

Molecular genetics of Tay-Sachs disease in Japan.

7837766

1994

dbSNP:

rs121907966

HEXA

0.810

GeneticVariation

UNIPROT

Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.

7951261

1994

dbSNP:

rs121907971

HEXA

0.810

GeneticVariation

UNIPROT

Molecular genetics of Tay-Sachs disease in Japan.

7837766

1994

dbSNP:

rs121907971

HEXA

0.810

GeneticVariation

UNIPROT

Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.

7951261

1994

dbSNP:

rs121907966

HEXA

0.810

GeneticVariation

UNIPROT

Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.

8445615

1993

dbSNP:

rs121907966

HEXA

0.810

GeneticVariation

CLINVAR

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

8490625

1993