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: rs121965086
rs121965086
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		0.800 GeneticVariation UNIPROT Sebelipase alfa: first global approval. 26452566 2015
dbSNP: rs121965086
rs121965086
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		G 0.800 GeneticVariation CLINVAR Orthotopic liver transplantation in an adult with cholesterol ester storage disease. 23430518 2013
dbSNP: rs121965086
rs121965086
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		G 0.800 GeneticVariation CLINVAR Structural bases of Wolman disease and cholesteryl ester storage disease. 22138108 2012
dbSNP: rs121965086
rs121965086
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		G 0.800 GeneticVariation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460 1999
dbSNP: rs121965086
rs121965086
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		G 0.800 CausalMutation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460 1999
dbSNP: rs121965086
rs121965086
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		0.800 GeneticVariation UNIPROT Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. 9633819 1998
dbSNP: rs121965086
rs121965086
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		G 0.800 GeneticVariation CLINVAR Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. 8617513 1996
dbSNP: rs121965086
rs121965086
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		G 0.800 CausalMutation CLINVAR Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression. 7499245 1995
dbSNP: rs121965086
rs121965086
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		G 0.800 GeneticVariation CLINVAR Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression. 7499245 1995
dbSNP: rs121965086
rs121965086
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		G 0.800 GeneticVariation CLINVAR Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease. 8598644 1995
dbSNP: rs121965086
rs121965086
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		G 0.800 GeneticVariation CLINVAR Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. 8146180 1994
dbSNP: rs121965086
rs121965086
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		0.800 GeneticVariation UNIPROT Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. 8146180 1994