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: rs267607218
rs267607218
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR Clinical Features of Lysosomal Acid Lipase Deficiency. 26252914 2015
dbSNP: rs267607218
rs267607218
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		0.710 GeneticVariation BEFREE The WD patients, all deceased before the first year of age, were homozygous for two novel mutations (c.299+1G>A and c.419G>A) or a mutation (c.796G>T) previously reported as compound heterozygosity in a CESD patient. 22227072 2012
dbSNP: rs267607218
rs267607218
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR The WD patients, all deceased before the first year of age, were homozygous for two novel mutations (c.299+1G>A and c.419G>A) or a mutation (c.796G>T) previously reported as compound heterozygosity in a CESD patient. 22227072 2012
dbSNP: rs267607218
rs267607218
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. 8617513 1996