Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
0.300 Biomarker disease GENOMICS_ENGLAND A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease. 8254026 1993