GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Hypertrophic Cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935197
rs28935197
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs28935197
rs28935197
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 CausalMutation CLINVAR α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. 29018006 2017
dbSNP: rs28935197
rs28935197
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 CausalMutation CLINVAR [Genetic and clinical study of three Chinese pedigrees with Fabry disease]. 23568732 2013
dbSNP: rs28935197
rs28935197
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T). 21972175 2012
dbSNP: rs28935197
rs28935197
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 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: rs28935197
rs28935197
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 CausalMutation 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: rs28935197
rs28935197
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. 15702404 2005
dbSNP: rs28935197
rs28935197
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. 10666480 1999
dbSNP: rs28935197
rs28935197
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. 7911050 1994
dbSNP: rs28935197
rs28935197
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Mutation analysis in patients with the typical form of Anderson-Fabry disease. 8395937 1993
dbSNP: rs28935197
rs28935197
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. 7504405 1993