LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 130; N. variants: 50
Disease: Wolman Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779712562
rs779712562
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 CausalMutation CLINVAR Clinical Features of Lysosomal Acid Lipase Deficiency. 26252914 2015
dbSNP: rs779712562
rs779712562
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 CausalMutation CLINVAR Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. 10627498 2000
dbSNP: rs779712562
rs779712562
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 CausalMutation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460 1999
dbSNP: rs779712562
rs779712562
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 CausalMutation CLINVAR A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease. 9554751 1998
dbSNP: rs779712562
rs779712562
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 CausalMutation CLINVAR Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase. 9367797 1997