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: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 1.000 definitive 0.987 78 63 1989 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.090 None 1.000 9 4 1993 2014
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2 		nuclear receptor subfamily 1 group H member 2 0.533 0.769 0.38
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.090 None 0.889 9 0 1997 2018
Entrez Id: 5887
Gene Symbol: RAD23B
RAD23B 		RAD23 homolog B, nucleotide excision repair protein 0.638 0.731 1.00
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.040 None 1.000 4 1 1997 2018
Entrez Id: 7507
Gene Symbol: XPA
XPA 		XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.030 None 0.667 3 0 2002 2007
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1 		mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.020 None 1.000 2 0 2015 2018
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.020 None 1.000 2 3 2005 2008
Entrez Id: 7517
Gene Symbol: XRCC3
XRCC3 		X-ray repair cross complementing 3 0.505 0.769 1.9E-10
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.020 None 1.000 2 1 2004 2005
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1 		X-ray repair cross complementing 1 0.421 0.923 6.3E-09
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.020 None 1.000 2 2 2004 2005
Entrez Id: 595
Gene Symbol: CCND1
CCND1 		cyclin D1 0.344 0.923 0.89
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.020 None 1.000 2 1 2004 2014
Entrez Id: 847
Gene Symbol: CAT
CAT 		catalase 0.359 0.962 1.6E-10
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.020 None 1.000 2 1 2010 2019
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 5743
Gene Symbol: PTGS2
PTGS2 		prostaglandin-endoperoxide synthase 2 0.314 0.962 1.00
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.010 None 1.000 1 1 2019 2019
Entrez Id: 56242
Gene Symbol: ZNF253
ZNF253 		zinc finger protein 253 0.736 0.346 3.2E-03
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 4968
Gene Symbol: OGG1
OGG1 		8-oxoguanine DNA glycosylase 0.453 0.808 3.9E-12
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.010 None 1.000 1 1 2008 2008
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55655
Gene Symbol: NLRP2
NLRP2 		NLR family pyrin domain containing 2 0.515 0.731 1.4E-38
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta 0.322 0.885 1.00
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5965
Gene Symbol: RECQL
RECQL 		RecQ like helicase 0.615 0.615 1.5E-20
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 8661
Gene Symbol: EIF3A
EIF3A 		eukaryotic translation initiation factor 3 subunit A 0.592 0.769 1.00
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 8451
Gene Symbol: CUL4A
CUL4A 		cullin 4A 0.597 0.654 1.00
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 83478
Gene Symbol: ARHGAP24
ARHGAP24 		Rho GTPase activating protein 24 0.456 0.808 3.9E-10
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 0.010 None 1.000 1 0 2007 2007