Source: BEFREE

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: 2071
Gene Symbol: ERCC3
ERCC3 		ERCC excision repair 3, TFIIH core complex helicase subunit 0.504 0.846 3.4E-11
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.050 None 1.000 5 0 1995 2012
Entrez Id: 404672
Gene Symbol: GTF2H5
GTF2H5 		general transcription factor IIH subunit 5 0.556 0.769 4.5E-02
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.040 None 1.000 4 0 1995 2010
Entrez Id: 2966
Gene Symbol: GTF2H2
GTF2H2 		general transcription factor IIH subunit 2 0.650 0.577 1.6E-02
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.030 None 1.000 3 0 1997 2010
Entrez Id: 9582
Gene Symbol: APOBEC3B
APOBEC3B 		apolipoprotein B mRNA editing enzyme catalytic subunit 3B 0.547 0.731 5.2E-16
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.030 None 1.000 3 0 2009 2014
Entrez Id: 2968
Gene Symbol: GTF2H4
GTF2H4 		general transcription factor IIH subunit 4 0.573 0.846 4.2E-07
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.030 None 1.000 3 0 1997 2010
Entrez Id: 2967
Gene Symbol: GTF2H3
GTF2H3 		general transcription factor IIH subunit 3 0.656 0.615 3.0E-08
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.030 None 1.000 3 0 1997 2010
Entrez Id: 2965
Gene Symbol: GTF2H1
GTF2H1 		general transcription factor IIH subunit 1 0.469 0.846 0.99
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.030 None 1.000 3 0 1997 2010
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2 		nuclear receptor subfamily 1 group H member 2 0.533 0.769 0.38
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.020 None 1.000 2 0 2010 2018
Entrez Id: 2944
Gene Symbol: GSTM1
GSTM1 		glutathione S-transferase mu 1 0.380 0.923 2.1E-03
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.020 None 1.000 2 0 2004 2019
Entrez Id: 2952
Gene Symbol: GSTT1
GSTT1 		glutathione S-transferase theta 1 0.393 0.923 1.5E-04
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.020 None 1.000 2 0 2004 2019
Entrez Id: 27306
Gene Symbol: HPGDS
HPGDS 		hematopoietic prostaglandin D synthase 0.388 0.923 1.8E-06
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.020 None 1.000 2 0 2004 2007
Entrez Id: 6240
Gene Symbol: RRM1
RRM1 		ribonucleotide reductase catalytic subunit M1 0.552 0.692 1.00
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.020 None 1.000 2 0 2004 2017
Entrez Id: 7298
Gene Symbol: TYMS
TYMS 		thymidylate synthetase 0.425 0.846 0.72
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.020 None 1.000 2 0 2008 2011
Entrez Id: 613
Gene Symbol: BCR
BCR 		BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 55016
Gene Symbol: MARCHF1
MARCHF1 		membrane associated ring-CH-type finger 1 0.540 0.808 8.7E-03
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 54659
Gene Symbol: UGT1A3
UGT1A3 		UDP glucuronosyltransferase family 1 member A3 0.623 0.538 1.3E-09
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1 		UDP glucuronosyltransferase family 1 member A1 0.464 0.769 3.3E-06
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 54657
Gene Symbol: UGT1A4
UGT1A4 		UDP glucuronosyltransferase family 1 member A4 0.595 0.654 6.0E-07
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 54600
Gene Symbol: UGT1A9
UGT1A9 		UDP glucuronosyltransferase family 1 member A9 0.590 0.577 5.4E-08
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 54579
Gene Symbol: UGT1A5
UGT1A5 		UDP glucuronosyltransferase family 1 member A5 0.656 0.462 9.4E-09
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 54578
Gene Symbol: UGT1A6
UGT1A6 		UDP glucuronosyltransferase family 1 member A6 0.560 0.654 3.0E-07
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 54577
Gene Symbol: UGT1A7
UGT1A7 		UDP glucuronosyltransferase family 1 member A7 0.550 0.692 8.7E-14
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 54576
Gene Symbol: UGT1A8
UGT1A8 		UDP glucuronosyltransferase family 1 member A8 0.588 0.654 1.3E-09
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 5502
Gene Symbol: PPP1R1A
PPP1R1A 		protein phosphatase 1 regulatory inhibitor subunit 1A 0.559 0.692 2.2E-02
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8682
Gene Symbol: PEA15
PEA15 		proliferation and apoptosis adaptor protein 15 0.553 0.692 0.79
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2013 2013