LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 130; N. variants: 50
Disease: Hepatosplenomegaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.110 GeneticVariation phenotype BEFREE Since the residual LAL activity is higher and the clinical phenotype based on plasma lipid values and severity of hepatosplenomegaly is milder in this case than in a previously studied case who was homozygous for the E8SJM allele, we conclude that the L336P variant appears to be associated with a phenotypically mild form of CESD. 7773732 1995
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.110 Biomarker phenotype HPO
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.110 GeneticVariation phenotype CLINVAR