Source: ALL

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: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 1.000 definitive 0.994 319 201 1965 2019
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		disease 0.610 None 1.000 6 4 2001 2011
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		disease 0.600 limited 0.982 110 12 1976 2019
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group 0.460 limited 1.000 35 3 1986 2018
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.400 None 1.000 2 2 2001 2015
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.360 limited 0.857 7 2 1994 2018
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C3888924
Disease: Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, infantile onset 		disease 0.330 None 1.000 3 4 2014 2019
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		disease 0.300 definitive 1.000 16 0 1965 2011
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0751174
Disease: Glycogen Storage Disease Type II, Juvenile
Glycogen Storage Disease Type II, Juvenile 		disease 0.300 None 1.000 5 0 2001 2011
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0751172
Disease: Adult Glycogen Storage Disease Type II
Adult Glycogen Storage Disease Type II 		disease 0.300 None 1.000 5 0 2001 2011
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C1704378
Disease: Heymann Nephritis
Heymann Nephritis 		disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0086445
Disease: Idiopathic Membranous Glomerulonephritis
Idiopathic Membranous Glomerulonephritis 		disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		disease 0.300 None 1.000 1 0 2001 2001
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0242973
Disease: Ventricular Dysfunction
Ventricular Dysfunction 		phenotype 0.300 None 1.000 1 0 2001 2001
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		disease 0.300 None 1.000 1 1 2001 2001
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C3888925
Disease: Pompe's disease adult onset
Pompe's disease adult onset 		disease 0.300 None 0 0
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.150 None 0.800 5 1 1986 2004
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 18 2 1988 2015
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 18 2 1988 2015
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		disease 0.100 None 1.000 1 1 2015 2015