GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Fabry Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886044829
rs886044829
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		C 0.700 GeneticVariation CLINVAR Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. 9100224 1997