Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2717
Gene Symbol: GLA
GLA 		galactosidase alpha 0.537 0.769 1.00
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		disease 1.000 definitive 0.992 162 135 1967 2020
Entrez Id: 2717
Gene Symbol: GLA
GLA 		galactosidase alpha 0.537 0.769 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.440 None 0.750 0 3 2010 2018
Entrez Id: 2717
Gene Symbol: GLA
GLA 		galactosidase alpha 0.537 0.769 1.00
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.200 None 1.000 26 3 1991 2019
Entrez Id: 2717
Gene Symbol: GLA
GLA 		galactosidase alpha 0.537 0.769 1.00
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.100 None 0 2
Entrez Id: 2717
Gene Symbol: GLA
GLA 		galactosidase alpha 0.537 0.769 1.00
CUI: C1970820
Disease: Fabry Disease, Cardiac Variant
Fabry Disease, Cardiac Variant 		disease 0.100 None 0 5