GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Left Ventricular Hypertrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148158093
rs148158093
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0149721
Disease:
Left Ventricular Hypertrophy 		0.010 GeneticVariation BEFREE Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C. 24661928 2014