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: rs116928232
rs116928232
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0020443
Disease:
Hypercholesterolemia
0.010 GeneticVariation BEFREE We used exome sequencing to assess all protein-coding regions of the genome in 3 family members and identified a homozygous exon 8 splice junction mutation (c.894G>A, also known as E8SJM) in LIPA that segregated with the diagnosis of hypercholesterolemia. 24072694 2013