GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 194 269 1.000 definitive 0.994 319 201 1965 2019
Glycogen Storage Disease Type II, Infantile
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 4 0.610 None 1.000 6 4 2001 2011
Generalized glycogen storage disease of infants
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 16 0.600 limited 0.982 110 12 1976 2019
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 63 16 0.460 limited 1.000 35 3 1986 2018
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.400 None 1.000 2 2 2001 2015
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.360 limited 0.857 7 2 1994 2018
Glycogen storage disease due to acid maltase deficiency, infantile onset
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 7 6 0.330 None 1.000 3 4 2014 2019
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 1 0.300 definitive 1.000 16 1965 2011
Glycogen Storage Disease Type II, Juvenile
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 5 2001 2011
Adult Glycogen Storage Disease Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 5 2001 2011
CUI: C1704378
Disease: Heymann Nephritis
Heymann Nephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2004 2004
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 197 33 0.300 None 1.000 1 2004 2004
Idiopathic Membranous Glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 79 13 0.300 None 1.000 1 2004 2004
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.300 None 1.000 1 2001 2001
CUI: C0242973
Disease: Ventricular Dysfunction
Ventricular Dysfunction
phenotype Cardiovascular Diseases Pathologic Function 11 0.300 None 1.000 1 2001 2001
Hypertrophic obstructive cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 233 90 0.300 None 1.000 1 1 2001 2001
CUI: C3888925
Disease: Pompe's disease adult onset
Pompe's disease adult onset
disease Disease or Syndrome 1 0.300 None 0
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.150 None 0.800 5 1 1986 2004
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 18 2 1988 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 18 2 1988 2015
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 1.000 1 1 2015 2015
CUI: C0013404
Disease: Dyspnea
Dyspnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.100 None 1.000 1 1 2015 2015
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.100 None 1.000 1 1 2015 2015
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 1.000 1 1 2015 2015
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 73 14 0.100 None 1.000 1 1 2015 2015