Source: CLINVAR

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: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		disease 0.200 None 0.992 182 54 1975 2020
Entrez Id: 338
Gene Symbol: APOB
APOB 		apolipoprotein B 0.453 0.808 1.9E-16
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		disease 0.200 None 1.000 56 3 1989 2020
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9 		proprotein convertase subtilisin/kexin type 9 0.482 0.808 2.7E-17
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		disease 0.200 None 0.950 6 1 2008 2020
Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886 		microRNA 6886 0.861 0.077
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		disease 0.100 None 1.000 12 11 1995 2016