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: rs104894833
rs104894833
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE This is the confusable case of HOCM with Fabry disease with the GLA E66Q mutation. 27160240 2016