LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 130; N. variants: 50
Disease: Cholesterol Ester Storage Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116928232
rs116928232
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0008384
Disease:
Cholesterol Ester Storage Disease 		0.730 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: C0008384
Disease:
Cholesterol Ester Storage Disease 		0.730 GeneticVariation BEFREE Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. 23424026 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 		0.730 GeneticVariation BEFREE Mutational analysis of the patient's blood showed the homozygous G-->A mutation at position -1 of the exon 8 splice donor site (E8SJM-allele) known for adult cholesteryl ester storage disease (CESD); the polymorphic background was that of the complex haplotype -6Thr, 2Gly, 894 G-->A. 10551400 1999
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