LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 130; N. variants: 50
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Acid cholesteryl ester hydrolase deficiency, type 2
0.600 Biomarker disease CTD_human
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.440 Biomarker disease GENOMICS_ENGLAND
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.440 Biomarker disease HPO
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.160 Biomarker disease HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
0.140 Biomarker disease HPO
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.130 Biomarker disease HPO
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.130 Biomarker disease HPO
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.120 Biomarker disease HPO
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly
0.110 Biomarker phenotype HPO
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly
0.110 GeneticVariation phenotype CLINVAR
CUI: C0085605
Disease: Liver Failure
Liver Failure
0.110 Biomarker disease HPO
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
0.100 Biomarker phenotype HPO
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia
0.100 Biomarker disease HPO
CUI: C0003962
Disease: Ascites
Ascites
0.100 Biomarker phenotype HPO
CUI: C0006625
Disease: Cachexia
Cachexia
0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.100 Biomarker phenotype HPO
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices
0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.100 Biomarker disease HPO
CUI: C0015967
Disease: Fever
Fever
0.100 Biomarker phenotype HPO
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
0.100 GeneticVariation disease CLINVAR
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.100 Biomarker phenotype HPO
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype HPO
CUI: C0022346
Disease: Icterus
Icterus
0.100 Biomarker phenotype HPO
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
0.100 Biomarker phenotype HPO