GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Disease: Absent reflex ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 CausalMutation phenotype CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551 2015
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO