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: rs747508159
rs747508159
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		C 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs747508159
rs747508159
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		C 0.700 GeneticVariation CLINVAR Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. 8894696 1996