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: 7508
Gene Symbol: XPC
XPC
XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.700 None 0.974 32 6 1994 2019
Entrez Id: 7507
Gene Symbol: XPA
XPA
XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.700 None 1.000 21 0 1991 2020
Entrez Id: 5429
Gene Symbol: POLH
POLH
DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.600 None 1.000 30 0 1999 2019
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.400 None 0.986 69 5 1992 2019
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.400 None 1.000 20 3 1994 2019
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit 0.445 0.846 1.6E-07
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.370 strong 0.889 7 0 1985 2019
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit 0.504 0.846 3.4E-11
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.300 None 0.974 38 1 1990 2020
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.300 None 1.000 14 3 1998 2019
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
damage specific DNA binding protein 2 0.576 0.654 7.4E-06
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.300 None 1.000 10 0 1999 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.100 None 0.929 28 0 1987 2013
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
nuclear receptor subfamily 1 group H member 2 0.533 0.769 0.38
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.100 None 0.958 24 0 2000 2020
Entrez Id: 2966
Gene Symbol: GTF2H2
GTF2H2
general transcription factor IIH subunit 2 0.650 0.577 1.6E-02
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.100 None 0.958 24 0 1993 2018
Entrez Id: 404672
Gene Symbol: GTF2H5
GTF2H5
general transcription factor IIH subunit 5 0.556 0.769 4.5E-02
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.100 None 0.958 24 0 1994 2018
Entrez Id: 2967
Gene Symbol: GTF2H3
GTF2H3
general transcription factor IIH subunit 3 0.656 0.615 3.0E-08
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.100 None 0.958 24 0 1993 2018
Entrez Id: 2965
Gene Symbol: GTF2H1
GTF2H1
general transcription factor IIH subunit 1 0.469 0.846 0.99
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.100 None 0.957 23 0 1993 2018
Entrez Id: 2968
Gene Symbol: GTF2H4
GTF2H4
general transcription factor IIH subunit 4 0.573 0.846 4.2E-07
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.100 None 0.955 22 0 1994 2018
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
DNA polymerase theta 0.695 0.462 1.3E-82
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.100 None 1.000 16 0 1999 2018
Entrez Id: 847
Gene Symbol: CAT
CAT
catalase 0.359 0.962 1.6E-10
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.090 None 1.000 9 0 1985 2008
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
X-ray repair cross complementing 1 0.421 0.923 6.3E-09
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.080 None 1.000 8 1 1994 2018
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.040 None 1.000 4 0 1993 2007
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.040 None 0.750 4 1 1996 2017
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
DNA ligase 4 0.478 0.846 4.2E-06
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.040 None 1.000 4 0 1991 2005
Entrez Id: 442459
Gene Symbol: XRCC6P5
XRCC6P5
X-ray repair cross complementing 6 pseudogene 5 0.579 0.769
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.040 None 1.000 4 0 1991 2013
Entrez Id: 1443
Gene Symbol: CSH2
CSH2
chorionic somatomammotropin hormone 2 0.566 0.808 1.3E-02
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.040 None 0.750 4 0 1996 2017
Entrez Id: 1442
Gene Symbol: CSH1
CSH1
chorionic somatomammotropin hormone 1 0.566 0.808 2.1E-05
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.040 None 0.750 4 0 1996 2017