DisGeNET - a database of gene-disease associations

GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203

Disease: Fabry Disease ×

Variant: rs797044777 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs797044777

Entrez Id:	2717;100529097
Gene Symbol:	GLA;RPL36A-HNRNPH2

GLA;RPL36A-HNRNPH2

CUI:	C0002986
Disease:

Fabry Disease

0.700

CausalMutation

CLINVAR

Female Fabry disease patients and X-chromosome inactivation.

29079200

2018

dbSNP:

rs797044777

Entrez Id:	2717;100529097
Gene Symbol:	GLA;RPL36A-HNRNPH2

GLA;RPL36A-HNRNPH2

CUI:	C0002986
Disease:

Fabry Disease

0.700

CausalMutation

CLINVAR

Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.

19287194

2009

dbSNP:

rs797044777

Entrez Id:	2717;100529097
Gene Symbol:	GLA;RPL36A-HNRNPH2

GLA;RPL36A-HNRNPH2

CUI:	C0002986
Disease:

Fabry Disease

0.700

CausalMutation

CLINVAR

Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

15712228

2005

dbSNP:

rs797044777

Entrez Id:	2717;100529097
Gene Symbol:	GLA;RPL36A-HNRNPH2

GLA;RPL36A-HNRNPH2

CUI:	C0002986
Disease:

Fabry Disease

0.700

CausalMutation

CLINVAR

Fabry disease: 20 novel GLA mutations in 35 families.

11668641

2001