Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935486
rs28935486
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.800 CausalMutation CLINVAR Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. 23935525

2013
dbSNP: rs28935486
rs28935486
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.800 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: rs28935486
rs28935486
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.800 CausalMutation CLINVAR The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. 19387866

2009
dbSNP: rs28935486
rs28935486
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.800 CausalMutation CLINVAR Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. 15712228

2005
dbSNP: rs28935486
rs28935486
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.800 CausalMutation CLINVAR Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. 7504405

1993