Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3988
Gene Symbol: LIPA
LIPA 		lipase A, lysosomal acid type 0.564 0.654 5.5E-07
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		disease 1.000 strong 0.989 3 0 1976 2020
Entrez Id: 3988
Gene Symbol: LIPA
LIPA 		lipase A, lysosomal acid type 0.564 0.654 5.5E-07
CUI: C0008384
Disease: Cholesterol Ester Storage Disease
Cholesterol Ester Storage Disease 		disease 0.800 strong 1.000 1 0 1993 2019
Entrez Id: 3988
Gene Symbol: LIPA
LIPA 		lipase A, lysosomal acid type 0.564 0.654 5.5E-07
CUI: C2936797
Disease: Acid cholesteryl ester hydrolase deficiency, type 2
Acid cholesteryl ester hydrolase deficiency, type 2 		disease 0.600 strong 1.000 2 0 1993 2020
Entrez Id: 3988
Gene Symbol: LIPA
LIPA 		lipase A, lysosomal acid type 0.564 0.654 5.5E-07
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease 0.440 strong 1.000 0 0 2013 2019
Entrez Id: 3988
Gene Symbol: LIPA
LIPA 		lipase A, lysosomal acid type 0.564 0.654 5.5E-07
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.300 strong 1.000 1 0 1993 1993
Entrez Id: 3988
Gene Symbol: LIPA
LIPA 		lipase A, lysosomal acid type 0.564 0.654 5.5E-07
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		disease 0.300 strong 1.000 1 0 2003 2003