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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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