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: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. 23424026 2013
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 GeneticVariation CLINVAR Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. 23583223 2013
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		0.710 GeneticVariation BEFREE Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. 21291321 2011
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. 21291321 2011
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 GeneticVariation CLINVAR Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. 11441129 2001
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. 11441129 2001
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. 9684740 1998
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 GeneticVariation CLINVAR New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. 9684740 1998
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 GeneticVariation CLINVAR Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. 8894696 1996
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. 8894696 1996
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR Permeability of gentamicin and polymyxin B into the inside of Bacillus subtilis spores. 2129132 1990