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: rs1554865206
rs1554865206
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 GeneticVariation CLINVAR Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. 8617513 1996
dbSNP: rs1554865206
rs1554865206
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 GeneticVariation CLINVAR A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred. 8864960 1996