GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Disease: Cardiomyopathies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764670084
rs764670084
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE Similar results were reported for c.1798C>T (p.Arg600Cys), which further supports the biochemical phenotype observed in IO. 24384324 2014
dbSNP: rs764670084
rs764670084
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE Similar results were reported for c.1798C>T (p.Arg600Cys), which further supports the biochemical phenotype observed in IO. 24384324 2014