Source: ORPHANET

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: 64241
Gene Symbol: ABCG8
ABCG8 		ATP binding cassette subfamily G member 8 0.573 0.538 2.4E-20
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		disease 1.000 None 1.000 1 0 2000 2019
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8 		ATP binding cassette subfamily G member 8 0.573 0.538 2.4E-20
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		disease 0.300 None 1.000 1 0 2010 2010