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: 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: 54575
Gene Symbol: UGT1A10
UGT1A10 		UDP glucuronosyltransferase family 1 member A10 0.588 0.615 4.6E-19
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: 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: 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
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: 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
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-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: 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: 4331
Gene Symbol: MNAT1
MNAT1 		MNAT1 component of CDK activating kinase 0.539 0.846 1.3E-12
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: 54576
Gene Symbol: UGT1A8
UGT1A8 		UDP glucuronosyltransferase family 1 member A8 0.588 0.654 1.3E-09
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: 54577
Gene Symbol: UGT1A7
UGT1A7 		UDP glucuronosyltransferase family 1 member A7 0.550 0.692 8.7E-14
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: 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: 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: 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: 54659
Gene Symbol: UGT1A3
UGT1A3 		UDP glucuronosyltransferase family 1 member A3 0.623 0.538 1.3E-09
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: 54658
Gene Symbol: UGT1A1
UGT1A1 		UDP glucuronosyltransferase family 1 member A1 0.464 0.769 3.3E-06
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: 54657
Gene Symbol: UGT1A4
UGT1A4 		UDP glucuronosyltransferase family 1 member A4 0.595 0.654 6.0E-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: 54600
Gene Symbol: UGT1A9
UGT1A9 		UDP glucuronosyltransferase family 1 member A9 0.590 0.577 5.4E-08
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: 54579
Gene Symbol: UGT1A5
UGT1A5 		UDP glucuronosyltransferase family 1 member A5 0.656 0.462 9.4E-09
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: 54578
Gene Symbol: UGT1A6
UGT1A6 		UDP glucuronosyltransferase family 1 member A6 0.560 0.654 3.0E-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: 4255
Gene Symbol: MGMT
MGMT 		O-6-methylguanine-DNA methyltransferase 0.412 0.885 1.2E-07
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 0.010 None 1.000 1 3 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