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: 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: 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 		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
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		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
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 Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460 1999
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
dbSNP: rs116928232
rs116928232
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		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
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		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
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 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 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: C0008384
Disease:
Cholesterol Ester Storage Disease 		T 0.730 CausalMutation CLINVAR Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. 22227072 2012
dbSNP: rs116928232
rs116928232
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0008384
Disease:
Cholesterol Ester Storage Disease 		T 0.730 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: rs1412444
rs1412444
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C1956346
Disease:
Coronary Artery Disease 		T 0.710 GeneticVariation GWASCAT A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 26343387 2015
dbSNP: rs1412444
rs1412444
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C1956346
Disease:
Coronary Artery Disease 		T 0.710 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs1457072724
rs1457072724
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		T 0.710 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: rs776472526
rs776472526
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		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: rs776472526
rs776472526
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		T 0.710 GeneticVariation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460 1999
dbSNP: rs776472526
rs776472526
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		T 0.710 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: rs1204744283
rs1204744283
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1332328
rs1332328
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0201657
Disease:
C-reactive protein measurement 		T 0.700 GeneticVariation GWASCAT Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. 30388399 2018