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: 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: 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: 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: 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: 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: 57008
Gene Symbol: RLFP1
RLFP1 		rearranged L-myc fusion pseudogene 1 0.769 0.423
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 56886
Gene Symbol: UGGT1
UGGT1 		UDP-glucose glycoprotein glucosyltransferase 1 0.682 0.385 5.2E-10
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		RAD51 recombinase 0.447 0.846 2.7E-02
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: 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: 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: 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: 8682
Gene Symbol: PEA15
PEA15 		proliferation and apoptosis adaptor protein 15 0.553 0.692 0.79
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4 		X-ray repair cross complementing 4 0.528 0.769 8.3E-07
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 164045
Gene Symbol: HFM1
HFM1 		helicase for meiosis 1 0.659 0.615 4.7E-32
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: 7516
Gene Symbol: XRCC2
XRCC2 		X-ray repair cross complementing 2 0.512 0.731 4.0E-07
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: 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: 7507
Gene Symbol: XPA
XPA 		XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
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: 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: 7361
Gene Symbol: UGT1A
UGT1A 		UDP glucuronosyltransferase family 1 member A complex locus 0.540 0.654
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 5502
Gene Symbol: PPP1R1A
PPP1R1A 		protein phosphatase 1 regulatory inhibitor subunit 1A 0.559 0.692 2.2E-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: 55016
Gene Symbol: MARCHF1
MARCHF1 		membrane associated ring-CH-type finger 1 0.540 0.808 8.7E-03
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 0 2009 2009
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: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 5 2006 2006
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