LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 90; N. variants: 17
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: C4280568
Disease: Hardened artery wall
Hardened artery wall
phenotype Finding 6 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 168 1 0.100 0
CUI: C0428478
Disease: Serum triglycerides raised
Serum triglycerides raised
phenotype Finding 46 0.100 0
CUI: C0271750
Disease: Adrenal calcification
Adrenal calcification
disease Disease or Syndrome 3 0.100 0
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype Finding 538 22 0.100 0
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 121 1 0.300 limited 0
CUI: C0162429
Disease: Malnutrition
Malnutrition
disease Nutritional and Metabolic Diseases Disease or Syndrome 224 16 0.100 0
CUI: C0162119
Disease: Hemoglobin low
Hemoglobin low
phenotype Finding 176 1 0.100 0
CUI: C0151686
Disease: Growth retardation
Growth retardation
phenotype Pathologic Function 167 0.100 0
CUI: C0085605
Disease: Liver Failure
Liver Failure
disease Digestive System Diseases Disease or Syndrome 175 8 0.100 0
CUI: C0042963
Disease: Vomiting
Vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 186 14 0.100 0
CUI: C0038238
Disease: Steatorrhea
Steatorrhea
phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Finding 23 0.100 0
CUI: C0595929
Disease: Serum cholesterol raised
Serum cholesterol raised
phenotype Finding 29 0.100 0
CUI: C0878787
Disease: Growth failure
Growth failure
phenotype Disease or Syndrome 211 3 0.100 0
CUI: C1836855
Disease: Vacuolated lymphocytes
Vacuolated lymphocytes
phenotype Finding 8 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C3552463
Disease: Very poor growth
Very poor growth
phenotype Sign or Symptom 173 10 0.100 0
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 296 20 0.100 0
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
disease Disease or Syndrome 69 0.100 0
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 568 41 0.100 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease Disease or Syndrome 542 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C1858430
Disease: Death in infancy
Death in infancy
phenotype Finding 102 0.100 0
CUI: C1856560
Disease: Bone-marrow foam cells
Bone-marrow foam cells
phenotype Finding 5 0.100 0