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: 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: 7515
Gene Symbol: XRCC1
XRCC1 		X-ray repair cross complementing 1 0.421 0.923 6.3E-09
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.100 None 0.957 47 5 2002 2019
Entrez Id: 7517
Gene Symbol: XRCC3
XRCC3 		X-ray repair cross complementing 3 0.505 0.769 1.9E-10
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.100 None 0.750 12 3 2003 2016
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: 4968
Gene Symbol: OGG1
OGG1 		8-oxoguanine DNA glycosylase 0.453 0.808 3.9E-12
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.090 None 1.000 9 4 2006 2016
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: 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: 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: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.040 None 1.000 4 4 1995 2018
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 55655
Gene Symbol: NLRP2
NLRP2 		NLR family pyrin domain containing 2 0.515 0.731 1.4E-38
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 4 2006 2006
Entrez Id: 64210
Gene Symbol: MMS19
MMS19 		MMS19 homolog, cytosolic iron-sulfur assembly component 0.751 0.385 8.3E-03
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2010 2010