LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 130; N. variants: 50
Disease: Wolman Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1457072724
rs1457072724
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		0.710 GeneticVariation BEFREE 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