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: 196
Gene Symbol: AHR
AHR 		aryl hydrocarbon receptor 0.410 0.923 1.00
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 1 2004 2004
Entrez Id: 328
Gene Symbol: APEX1
APEX1 		apurinic/apyrimidinic endodeoxyribonuclease 1 0.458 0.846 1.9E-07
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.040 None 0.750 4 3 2003 2014
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: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 573
Gene Symbol: BAG1
BAG1 		BAG cochaperone 1 0.538 0.769 6.5E-06
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 596
Gene Symbol: BCL2
BCL2 		BCL2 apoptosis regulator 0.291 0.885 0.56
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: 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: 595
Gene Symbol: CCND1
CCND1 		cyclin D1 0.344 0.923 0.89
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: 978
Gene Symbol: CDA
CDA 		cytidine deaminase 0.558 0.731 8.1E-03
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.040 None 0.750 4 2 2008 2014
Entrez Id: 1019
Gene Symbol: CDK4
CDK4 		cyclin dependent kinase 4 0.412 0.808 6.3E-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: 51647
Gene Symbol: CIAO2B
CIAO2B 		cytosolic iron-sulfur assembly component 2B 1.000 0.154 3.8E-03
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 5 2011 2011
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1 		ERCC excision repair 1, endonuclease non-catalytic subunit 0.445 0.846 1.6E-07
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.100 None 0.900 10 2 2004 2016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 1.000 definitive 0.935 41 19 1977 2017
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: 2073
Gene Symbol: ERCC5
ERCC5 		ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.030 None 1.000 3 1 2006 2016
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 2189
Gene Symbol: FANCG
FANCG 		FA complementation group G 0.556 0.769 2.5E-14
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 1 2006 2006
Entrez Id: 2932
Gene Symbol: GSK3B
GSK3B 		glycogen synthase kinase 3 beta 0.430 0.846 0.96
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: 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: 2950
Gene Symbol: GSTP1
GSTP1 		glutathione S-transferase pi 1 0.383 0.923 1.4E-02
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.020 None 1.000 2 1 2007 2011
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: 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: 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: 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