Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935493
rs28935493
GLA ; RPL36A-HNRNPH2
T 0.810 CausalMutation CLINVAR X-chromosome inactivation in female patients with Fabry disease. 25974833

2016
dbSNP: rs28935493
rs28935493
GLA ; RPL36A-HNRNPH2
T 0.810 CausalMutation CLINVAR Fabry disease: a new approach for the screening of females in high-risk groups. 24582695

2014
dbSNP: rs28935493
rs28935493
GLA ; RPL36A-HNRNPH2
T 0.810 CausalMutation CLINVAR Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. 23935525

2013
dbSNP: rs28935493
rs28935493
GLA ; RPL36A-HNRNPH2
T 0.810 CausalMutation CLINVAR New mutations in the GLA gene in Brazilian families with Fabry disease. 22551898

2012
dbSNP: rs28935493
rs28935493
GLA ; RPL36A-HNRNPH2
T 0.810 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: rs28935493
rs28935493
GLA ; RPL36A-HNRNPH2
T 0.810 CausalMutation CLINVAR Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease). 20628902

2010
dbSNP: rs28935493
rs28935493
GLA ; RPL36A-HNRNPH2
T 0.810 CausalMutation CLINVAR Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. 18424138

2008