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: 6928
Gene Symbol: HNF1B
HNF1B
HNF1 homeobox B 0.526 0.621 1.00
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.320 1.000 11 0 1997 2015
Entrez Id: 80270
Gene Symbol: HSD3B7
HSD3B7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 0.713 0.276 1.3E-08
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.320 strong 1.000 2 0 2000 2010
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
cytochrome P450 family 7 subfamily B member 1 0.604 0.517 3.2E-06
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.310 moderate < 0.001 1 0 1998 2012
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
nuclear receptor subfamily 1 group H member 4 0.522 0.655 1.3E-03
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.310 strong 1.000 0 0 2016 2016
Entrez Id: 383
Gene Symbol: ARG1
ARG1
arginase 1 0.551 0.724 3.3E-04
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.310 limited 1.000 0 0 2016 2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
NPC intracellular cholesterol transporter 1 0.536 0.690 2.8E-05
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 strong 8 0 1997 2013
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
cytochrome P450 family 27 subfamily A member 1 0.582 0.655 2.4E-19
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 strong 8 0 1991 2018
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
lipase A, lysosomal acid type 0.609 0.448 3.9E-07
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 strong 8 0 1994 2018
Entrez Id: 1244
Gene Symbol: ABCC2
ABCC2
ATP binding cassette subfamily C member 2 0.495 0.690 7.5E-47
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 strong 7 0 1998 2018
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
deoxyguanosine kinase 0.616 0.448 3.6E-07
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 strong 7 0 1993 2018
Entrez Id: 2184
Gene Symbol: FAH
FAH
fumarylacetoacetate hydrolase 0.624 0.483 6.8E-17
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 strong 6 0 2000 2017
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 0.735 0.241 1.3E-16
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 strong 4 0 2009 2013
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
NPC intracellular cholesterol transporter 2 0.607 0.655 1.9E-03
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 strong 4 0 2001 2007
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
cystic fibrosis transmembrane conductance regulator 0.453 0.793 1.1E-57
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 strong 4 0 1999 2016
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
nephrocystin 3 0.604 0.414 1.2E-15
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 moderate 4 0 2008 2014
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
doublecortin domain containing 2 0.648 0.310 4.1E-10
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 strong 3 0 2015 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
serpin family A member 1 0.453 0.793 4.2E-08
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 limited 3 0 2014 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.554 0.655 3.3E-14
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 strong 3 0 1997 2013
Entrez Id: 5195
Gene Symbol: PEX14
PEX14
peroxisomal biogenesis factor 14 0.588 0.621 0.26
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 strong 3 0 2004 2017
Entrez Id: 132
Gene Symbol: ADK
ADK
adenosine kinase 0.639 0.483 3.6E-04
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 moderate 3 0 2011 2016
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
solute carrier family 25 member 13 0.667 0.345 2.9E-21
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 strong 3 0 2001 2003
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5
ATP binding cassette subfamily G member 5 0.602 0.414 3.5E-21
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 limited 3 0 2006 2018
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
MPV17, mitochondrial inner membrane protein 0.611 0.483 1.2E-10
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 strong 3 0 2006 2008
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
peroxisomal biogenesis factor 12 0.586 0.621 1.2E-15
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 moderate 2 0 1997 1997
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
notch 2 0.474 0.724 1.00
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 strong 2 0 2006 2012