GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Fabry Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 GeneticVariation UNIPROT Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant. 27142856 2016
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 GeneticVariation UNIPROT Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523 2016
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 GeneticVariation UNIPROT Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease. 12786754 2003
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 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: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 GeneticVariation UNIPROT Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. 10838196 2000
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 GeneticVariation UNIPROT Identification of four novel mutations in five unrelated Korean families with Fabry disease. 11076046 2000
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 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: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 GeneticVariation UNIPROT Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. 10666480 1999
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 GeneticVariation UNIPROT Mutation analysis in 11 French patients with Fabry disease. 9452111 1998
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 GeneticVariation UNIPROT Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote. 9452090 1998
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 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: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 GeneticVariation UNIPROT Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins. 7759078 1995
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 GeneticVariation UNIPROT An atypical variant of Fabry's disease in men with left ventricular hypertrophy. 7596372 1995
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 GeneticVariation UNIPROT Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease. 8069316 1994
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 GeneticVariation UNIPROT Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. 7504405 1993
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 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: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 GeneticVariation UNIPROT An atypical variant of Fabry's disease with manifestations confined to the myocardium. 1846223 1991
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 GeneticVariation UNIPROT Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. 2171331 1990
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 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
dbSNP: rs782449839
rs782449839
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.700 GeneticVariation UNIPROT Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. 2539398 1989