GAA, glucosidase alpha, acid, 2548

N. diseases: 34; N. variants: 172
Source: INFERRED ×
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 1 1.000 definitive 0.994 223 165 1965 2019
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.610 None 1.000 0 4 2001 2011
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 0.460 limited 1.000 30 3 1986 2018
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 236 0.400 None 1.000 1 1 2001 2015
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 246 0.150 None 0.800 0 1 1986 2004
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 1.000 18 2 1988 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 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 198 0.100 None 1.000 1 1 2015 2015
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 381 0.100 None 1.000 1 1 2015 2015
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 89 0.100 None 1.000 1 1 2015 2015
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 0.100 None 1.000 1 1 2018 2018
CUI: C0032285
Disease: Pneumonia
Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 109 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 135 0.100 None 1.000 1 1 2015 2015
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 85 0.100 None 1.000 1 1 2015 2015
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 472 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 51 0.100 None 1.000 1 1 2015 2015
CUI: C4016981
Disease: GLYCOGEN STORAGE DISEASE II, ADULT FORM
GLYCOGEN STORAGE DISEASE II, ADULT FORM 		disease Finding 1 0.100 None 0 6
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 942 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 0.100 None 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		phenotype Respiratory Tract Diseases Finding 85 0.100 None 0
CUI: C1850656
Disease: Firm muscles
Firm muscles 		phenotype Finding 2 0.100 None 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		disease Anatomical Abnormality 9 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 551 0.100 None 0
CUI: C0520878
Disease: Shortened PR interval
Shortened PR interval 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 6 0.100 None 0
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 239 0.100 None 0