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: 1593
Gene Symbol: CYP27A1
CYP27A1
cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0302164
Disease: Tuberous xanthoma
Tuberous xanthoma
disease 0.100 None 0 0
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5
ATP binding cassette subfamily G member 5 0.592 0.577 3.1E-21
CUI: C0302164
Disease: Tuberous xanthoma
Tuberous xanthoma
disease 0.100 None 0 0
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
ATP binding cassette subfamily G member 8 0.573 0.538 2.4E-20
CUI: C0302164
Disease: Tuberous xanthoma
Tuberous xanthoma
disease 0.100 None 0 0
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0302164
Disease: Tuberous xanthoma
Tuberous xanthoma
disease 0.010 None 1.000 1 2 2006 2006