LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 130; N. variants: 50
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: rs1412444
rs1412444
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0010068
Disease:
Coronary heart disease 		T 0.800 GeneticVariation GWASCAT A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. 21378988 2011
dbSNP: rs1412444
rs1412444
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0010068
Disease:
Coronary heart disease 		T 0.800 GeneticVariation GWASDB A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. 21606135 2011
dbSNP: rs1412444
rs1412444
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0010068
Disease:
Coronary heart disease 		T 0.800 GeneticVariation GWASCAT A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. 21606135 2011
dbSNP: rs1412444
rs1412444
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0010068
Disease:
Coronary heart disease 		T 0.800 GeneticVariation GWASDB A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. 21378988 2011
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
dbSNP: rs116928232
rs116928232
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		0.740 GeneticVariation BEFREE The commonest genetic cause of cholesteryl ester storage disease is an exon 8 splice junction variant in the LIPA gene (rs116928232, c.894G>A; E8SJM) previously found to have an allele frequency of 0.0011 (1 in 450 individuals) in a large European population. 30056760 2019
dbSNP: rs116928232
rs116928232
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		0.740 GeneticVariation BEFREE Meta-analysis of existing genetic studies estimated the prevalence of LAL-D as 1 per 160,000 (95% CI 1 per 65,025-761,652) using the allele frequency of c.894G>A in LIPA. 30315827 2019
dbSNP: rs116928232
rs116928232
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		T 0.740 CausalMutation CLINVAR Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. 24072694 2013
dbSNP: rs116928232
rs116928232
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		0.740 GeneticVariation BEFREE Moreover, future studies on CESD prevalence in African and Asian populations may require full-gene LIPA sequencing to determine heterozygote frequencies, since c.894G>A is not common in these racial groups. 23424026 2013
dbSNP: rs116928232
rs116928232
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		T 0.740 CausalMutation CLINVAR Additionally, by surveying the available literature, c.894G>A was estimated to account for 60% (95% confidence interval [CI]: 51%-69%) of reported mutations among multiethnic CESD patients. 23424026 2013
dbSNP: rs116928232
rs116928232
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		T 0.740 CausalMutation CLINVAR Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. 23485521 2013
dbSNP: rs116928232
rs116928232
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		T 0.740 CausalMutation CLINVAR The c.894G>A mutation was found in homozygosity in four patients and, as compound heterozygosity, in association with a known (p.H295Y and p.G342R) or a novel (p.W140*) mutation in four other CESD patients. 22227072 2012
dbSNP: rs116928232
rs116928232
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		T 0.740 GeneticVariation CLINVAR The c.894G>A mutation was found in homozygosity in four patients and, as compound heterozygosity, in association with a known (p.H295Y and p.G342R) or a novel (p.W140*) mutation in four other CESD patients. 22227072 2012
dbSNP: rs116928232
rs116928232
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		T 0.740 GeneticVariation CLINVAR Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease. 21757691 2011