DisGeNET - a database of gene-disease associations

Fabry Disease, C0002986

Variant: rs372966991 ×

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:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

CLINVAR

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.

7531540

1994

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.

8069316

1994

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

CLINVAR

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.

11889412

2002

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.

9452090

1998

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

11295840

2001

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.

7759078

1995

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

An atypical variant of Fabry's disease in men with left ventricular hypertrophy.

7596372

1995

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

7504405

1993

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

CLINVAR

Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

17555407

2007

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.

12786754

2003

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

CLINVAR

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

23935525

2013

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

CLINVAR

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.

25596309

2015

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

CLINVAR

Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.

18205205

2008

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

26415523

2016

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

9105656

1997

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

2171331

1990

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

10666480

1999

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

27142856

2016

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

2539398

1989

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

An atypical variant of Fabry's disease with manifestations confined to the myocardium.

1846223

1991

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

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

10838196

2000

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

Mutation analysis in 11 French patients with Fabry disease.

9452111

1998

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

1315715

1992

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

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

10208848

1999

dbSNP:

rs372966991

GLA ; RPL36A-HNRNPH2

0.800

GeneticVariation

UNIPROT

A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.

2152885

1990