DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Tay-Sachs Disease ×

Gene: HEXA ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	3073
Gene Symbol:	HEXA

HEXA

CUI:	C0039373
Disease:	Tay-Sachs Disease

Tay-Sachs Disease

1.000

Biomarker

GENOMICS_ENGLAND

Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations.

27033294

2016

Entrez Id:	3073
Gene Symbol:	HEXA

HEXA

CUI:	C0039373
Disease:	Tay-Sachs Disease

Tay-Sachs Disease

1.000

Biomarker

GENOMICS_ENGLAND

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

27604308

2016

Entrez Id:	3073
Gene Symbol:	HEXA

HEXA

CUI:	C0039373
Disease:	Tay-Sachs Disease

Tay-Sachs Disease

1.000

Biomarker

GENOMICS_ENGLAND

A practical approach to diagnosing adult onset leukodystrophies.

24357685

2014

Entrez Id:	3073
Gene Symbol:	HEXA

HEXA

CUI:	C0039373
Disease:	Tay-Sachs Disease

Tay-Sachs Disease

1.000

Biomarker

GENOMICS_ENGLAND

Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients.

18642377

2008

Entrez Id:	3073
Gene Symbol:	HEXA

HEXA

CUI:	C0039373
Disease:	Tay-Sachs Disease

Tay-Sachs Disease

1.000

Biomarker

GENOMICS_ENGLAND

Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system.

14972652

2004

Entrez Id:	3073
Gene Symbol:	HEXA

HEXA

CUI:	C0039373
Disease:	Tay-Sachs Disease

Tay-Sachs Disease

1.000

Biomarker

GENOMICS_ENGLAND

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

8490625

1993