GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
0.110 AlteredExpression disease BEFREE Classic Fabry disease, an X-linked recessive lysosomal storage disease due to the deficient activity of alpha-galactosidase A, typically presents in early childhood with acroparesthesias, angiokeratomas, hypohidrosis, and corneal dystrophy. 16533976 2006
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
0.110 Biomarker disease HPO