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: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.900 strong 0.982 456 1279 1964 2020
Entrez Id: 338
Gene Symbol: APOB
APOB 		apolipoprotein B 0.453 0.808 1.9E-16
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.700 strong 0.986 12 29 1979 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9 		proprotein convertase subtilisin/kexin type 9 0.482 0.808 2.7E-17
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.500 strong 0.977 5 31 2003 2020
Entrez Id: 26228
Gene Symbol: STAP1
STAP1 		signal transducing adaptor family member 1 0.792 0.231 1.7E-05
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.140 None 1.000 1 1 2016 2020
Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886 		microRNA 6886 0.861 0.077
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.100 None 1.000 17 253 1995 2016