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: rs1554865214
rs1554865214
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 GeneticVariation CLINVAR Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype. 25620107 2015
dbSNP: rs1554865214
rs1554865214
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 GeneticVariation CLINVAR Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. 22227072 2012
dbSNP: rs1554865214
rs1554865214
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 GeneticVariation CLINVAR New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. 9684740 1998
dbSNP: rs1554865214
rs1554865214
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 GeneticVariation CLINVAR Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase. 9367797 1997
dbSNP: rs1554865214
rs1554865214
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 GeneticVariation CLINVAR Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. 8894696 1996
dbSNP: rs1554865214
rs1554865214
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 GeneticVariation CLINVAR A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease. 7833918 1994