Source: ALL

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 62 36 1977 2017
Entrez Id: 149420
Gene Symbol: PDIK1L
PDIK1L 		PDLIM1 interacting kinase 1 like 0.534 0.769 0.26
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 1990 1990
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: 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: 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
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: 3383
Gene Symbol: ICAM1
ICAM1 		intercellular adhesion molecule 1 0.364 0.962 3.5E-02
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 1997 1997
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: 442459
Gene Symbol: XRCC6P5
XRCC6P5 		X-ray repair cross complementing 6 pseudogene 5 0.579 0.769
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2002 2002
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: 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: 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: 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: 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: 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: 4552
Gene Symbol: MTRR
MTRR 		5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.502 0.808 2.2E-14
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2004 2004
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: 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: 5111
Gene Symbol: PCNA
PCNA 		proliferating cell nuclear antigen 0.382 0.846 0.98
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 5053
Gene Symbol: PAH
PAH 		phenylalanine hydroxylase 0.516 0.769 6.4E-23
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 1 2006 2006