LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 130; N. variants: 50
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: C0268247
Disease: Niemann-Pick Disease, Type D
Niemann-Pick Disease, Type D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 1 0.300 None 1.000 1 2010 2010
CUI: C0008384
Disease: Cholesterol Ester Storage Disease
Cholesterol Ester Storage Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 5 0.800 strong 1.000 34 5 1993 2019
CUI: C0042782
Disease: Visceromegaly
Visceromegaly 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 3 1 0.100 None 0 1
CUI: C0271750
Disease: Adrenal calcification
Adrenal calcification 		disease Endocrine System Diseases Disease or Syndrome 3 0.100 None 0
CUI: C1856560
Disease: Bone-marrow foam cells
Bone-marrow foam cells 		phenotype Finding 5 2 0.100 None 0
CUI: C2675627
Disease: Acholic stool
Acholic stool 		phenotype Digestive System Diseases Finding 6 1 0.100 None 0 1
CUI: C1836855
Disease: Vacuolated lymphocytes
Vacuolated lymphocytes 		phenotype Finding 8 0.100 None 0
CUI: C4317149
Disease: Vacuolated Lymphocyte Count
Vacuolated Lymphocyte Count 		phenotype Laboratory Procedure 8 0.100 None 0
CUI: C2936797
Disease: Acid cholesteryl ester hydrolase deficiency, type 2
Acid cholesteryl ester hydrolase deficiency, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 3 0.600 strong 1.000 24 3 1993 2020
CUI: C0474496
Disease: Diarrhea and vomiting, symptom
Diarrhea and vomiting, symptom 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 9 0.010 None 1.000 1 2014 2014
CUI: C3553774
Disease: INTERSTITIAL NEPHRITIS, KARYOMEGALIC
INTERSTITIAL NEPHRITIS, KARYOMEGALIC 		disease Disease or Syndrome 9 11 0.010 None 1.000 1 2018 2018
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		disease Disease or Syndrome 10 3 0.020 None 1.000 2 2013 2017
CUI: C0267809
Disease: Cirrhosis, Cryptogenic
Cirrhosis, Cryptogenic 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 15 5 0.050 None 1.000 5 2016 2020
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 35 1.000 strong 0.989 90 32 1976 2020
CUI: C1842247
Disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 25 35 0.100 None 1.000 1 2 2013 2013
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		phenotype Finding 25 2 0.100 None 0
CUI: C4054726
Disease: Infant Leukemia
Infant Leukemia 		disease Neoplastic Process 27 0.010 None 1.000 1 2017 2017
CUI: C0267971
Disease: Storage disease
Storage disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 28 1 0.010 None 1.000 1 2013 2013
CUI: C0004698
Disease: Balkan Nephropathy
Balkan Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 34 4 0.010 None 1.000 1 2018 2018
CUI: C0153446
Disease: Malignant neoplasm of anus
Malignant neoplasm of anus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 34 0.010 None 1.000 1 2019 2019
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Finding 37 0.100 None 0
CUI: C0030848
Disease: Peyronie Disease
Peyronie Disease 		disease Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 41 1 0.010 None 1.000 1 2017 2017
CUI: C0279637
Disease: Anal carcinoma
Anal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 42 0.010 None 1.000 1 2019 2019
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 43 192 0.300 None 1.000 1 2010 2010
CUI: C4049993
Disease: Aristolochic Acid Nephropathy
Aristolochic Acid Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 49 0.010 None 1.000 1 2018 2018