Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation CLINVAR Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. 31180157

2019
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation CLINVAR Lysosomal acid lipase deficiency in all siblings of the same parents. 28502515

2018
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation CLINVAR Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency. 25624737

2015
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation CLINVAR Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype. 25620107

2015
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 CausalMutation CLINVAR Clinical Features of Lysosomal Acid Lipase Deficiency. 26252914

2015
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation CLINVAR New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease). 24048164

2015
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 CausalMutation CLINVAR Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. 24993530

2014
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation CLINVAR Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. 24792990

2014
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation CLINVAR Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. 23583223

2013
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 CausalMutation CLINVAR Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. 23424026

2013
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 CausalMutation CLINVAR Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. 23485521

2013
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation CLINVAR Orthotopic liver transplantation in an adult with cholesterol ester storage disease. 23430518

2013
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 CausalMutation CLINVAR Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. 24072694

2013
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 CausalMutation CLINVAR Aim of the study was the identification of LIPA mutations in three WD and eight CESD patients. 22227072

2012
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation CLINVAR Structural bases of Wolman disease and cholesteryl ester storage disease. 22138108

2012
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation CLINVAR Aim of the study was the identification of LIPA mutations in three WD and eight CESD patients. 22227072

2012
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 CausalMutation CLINVAR Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. 21291321

2011
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation CLINVAR Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease. 21757691

2011
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation CLINVAR Intragenic deletion as a novel type of mutation in Wolman disease. 21963785

2011
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation CLINVAR Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. 11441129

2001
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 CausalMutation CLINVAR Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. 11441129

2001
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 CausalMutation CLINVAR Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. 10627498

2000
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460

1999
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 CausalMutation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460

1999