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: rs1423914418
rs1423914418
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		0.710 GeneticVariation BEFREE The dosage of serum lysosomal acid lipase was undetectable and we found the presence of a rare homozygous mutation in the gene associated with the lysosomal acid lipase deficiency, (allele c.386A > G homozygous p.H129R). 31113597 2020
dbSNP: rs1423914418
rs1423914418
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		0.710 GeneticVariation UNIPROT Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. 9633819 1998
dbSNP: rs1423914418
rs1423914418
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		0.710 GeneticVariation UNIPROT Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. 8146180 1994