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: 1244
Gene Symbol: ABCC2
ABCC2 		ATP binding cassette subfamily C member 2 0.483 0.808 5.2E-47
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.800 strong 0.963 2 0 2000 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.500 strong 1.000 1 0 1999 2005
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.400 moderate 1.000 2 0 1998 2002
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B 		myosin VB 0.641 0.731 3.4E-23
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.330 None 1.000 1 0 2008 2017
Entrez Id: 4358
Gene Symbol: MPV17
MPV17 		mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.310 strong 1.000 1 0 2008 2014
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK 		deoxyguanosine kinase 0.593 0.500 3.7E-07
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.310 strong 1.000 1 0 2007 2014
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B 		HNF1 homeobox B 0.473 0.808 1.00
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.310 strong 1.000 1 0 2012 2015
Entrez Id: 570
Gene Symbol: BAAT
BAAT 		bile acid-CoA:amino acid N-acyltransferase 0.578 0.654 7.9E-08
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.300 strong 1.000 2 0 2003 2013
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: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.300 moderate 1.000 1 0 2000 2000
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.300 strong 1.000 1 0 2005 2005
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1 		aldo-keto reductase family 1 member D1 0.711 0.385 1.7E-07
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.300 strong 0 0