Source: INFERRED

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 25 58 1989 2019
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 7 5 1994 2019
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.500 None 0.909 0 0 2005 2018
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.450 None 0.800 0 0 2005 2016
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease 0.120 None 1.000 0 0 2014 2015
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		disease 0.120 None 1.000 0 1 2008 2013
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.110 None 1.000 0 0 2012 2012
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0005890
Disease: Body Height
Body Height 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		phenotype 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		disease 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		phenotype 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		disease 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0241355
Disease: Small testicle
Small testicle 		phenotype 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		disease 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		phenotype 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group 0.100 None 0 0
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		phenotype 0.100 None 0 0