DisGeNET - a database of gene-disease associations

Fabry Disease, C0002986

Variant: rs104894828 ×

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:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

27356758

2016

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

27560961

2016

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Diagnosing Fabry disease--delays and difficulties within discordant siblings.

23378663

2015

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.

25382311

2015

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

24386359

2013

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Pharmacological chaperone therapy for Fabry disease.

22241068

2012

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

21598360

2011

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.

20505683

2010

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Screening for pharmacological chaperones in Fabry disease.

17532296

2007

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.

15702404

2005

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.

12428061

2002

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant.

11688386

2001

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.

11322659

2001

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

10838196

2000

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

10916280

2000

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.

9883849

1999

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

10208848

1999

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Generation and characterization of transgenic mice expressing a human mutant alpha-galactosidase with an R301Q substitution causing a variant form of Fabry disease.

9395081

1997

dbSNP:

rs104894828

GLA ; RPL36A-HNRNPH2

0.840

CausalMutation

CLINVAR

Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.

8738659

1996

dbSNP: