Gene: LIPA ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965086
rs121965086
LIPA
G 0.800 GeneticVariation CLINVAR Orthotopic liver transplantation in an adult with cholesterol ester storage disease. 23430518

2013
dbSNP: rs121965086
rs121965086
LIPA
G 0.800 GeneticVariation CLINVAR Structural bases of Wolman disease and cholesteryl ester storage disease. 22138108

2012
dbSNP: rs121965086
rs121965086
LIPA
G 0.800 GeneticVariation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460

1999
dbSNP: rs121965086
rs121965086
LIPA
G 0.800 CausalMutation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460

1999
dbSNP: rs121965086
rs121965086
LIPA
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
LIPA
G 0.800 CausalMutation CLINVAR Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression. 7499245

1995
dbSNP: rs121965086
rs121965086
LIPA
G 0.800 GeneticVariation CLINVAR Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression. 7499245

1995
dbSNP: rs121965086
rs121965086
LIPA
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
LIPA
G 0.800 GeneticVariation CLINVAR Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. 8146180

1994
dbSNP: rs116928232
rs116928232
LIPA
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
LIPA
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
LIPA
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
LIPA
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
LIPA
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
LIPA
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
dbSNP: rs116928232
rs116928232
LIPA
T 0.740 GeneticVariation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460

1999
dbSNP: rs116928232
rs116928232
LIPA
T 0.740 CausalMutation CLINVAR New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. 9684740

1998
dbSNP: rs116928232
rs116928232
LIPA
T 0.740 CausalMutation CLINVAR Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. 8617513

1996
dbSNP: rs116928232
rs116928232
LIPA
T 0.740 CausalMutation CLINVAR Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD). 7759067

1995
dbSNP: rs116928232
rs116928232
LIPA
T 0.740 CausalMutation CLINVAR A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease. 8254026

1993
dbSNP: rs116928232
rs116928232
LIPA
G 0.740 GeneticVariation CLINVAR

dbSNP: rs267607218
rs267607218
LIPA
A 0.710 CausalMutation CLINVAR Clinical Features of Lysosomal Acid Lipase Deficiency. 26252914

2015
dbSNP: rs776472526
rs776472526
LIPA
T 0.710 GeneticVariation CLINVAR New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease). 24048164

2015
dbSNP: rs587778878
rs587778878
LIPA
A 0.710 GeneticVariation CLINVAR Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. 23583223

2013
dbSNP: rs587778878
rs587778878
LIPA
A 0.710 CausalMutation CLINVAR Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. 23424026

2013