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: rs767688436
rs767688436
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		C 0.700 GeneticVariation CLINVAR Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. 31180157 2019
dbSNP: rs767688436
rs767688436
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		C 0.700 GeneticVariation CLINVAR Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency. 25624737 2015