Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE χ<sup>2</sup> tests showed that XRCC1-194, XRCC1-280 and XPD-312 gene polymorphisms were significantly correlated with the number, location and diameter of the tumors (p<0.05). 28927037 2017
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1.000 Biomarker disease GENOMICS_ENGLAND [Quantitative electron microscopy of the normal human lymphocyte (author's transl)]. 601675 1977
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.700 Biomarker disease GENOMICS_ENGLAND [Quantitative electron microscopy of the normal human lymphocyte (author's transl)]. 601675 1977
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.700 GeneticVariation disease LHGDN [Association of genetic polymorphisms in the DNA repair gene XPD with risk of lung and esophageal cancer in a Chinese population in Beijing]. 12579497 2003
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.050 GeneticVariation group LHGDN [Association of genetic polymorphisms in the DNA repair gene XPD with risk of lung and esophageal cancer in a Chinese population in Beijing]. 12579497 2003
CUI: C0028797
Disease: Occupational Diseases
Occupational Diseases 		0.300 Biomarker group CTD_human [Association between polymorphisms of XPD gene and susceptibility to chronic benzene poisoning]. 16889696 2006
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.030 GeneticVariation disease BEFREE XRCC1, XRCC3, and XPD polymorphisms as modifiers of the effect of smoking and alcohol on colorectal adenoma risk. 17164360 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE XRCC1, XRCC2, TP53, and ERCC2 variants were each nominally associated with several types of cancer. 19116388 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 GeneticVariation group BEFREE XRCC1, XRCC2, TP53, and ERCC2 variants were each nominally associated with several types of cancer. 19116388 2009
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.700 GeneticVariation disease LHGDN XRCC1 codon 399 and ERCC2 codon 751 polymorphism, smoking, and drinking and risk of esophageal squamous cell carcinoma in a North Indian population. 17556064 2007
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.030 GeneticVariation disease BEFREE XRCC1 and XPD genetic polymorphisms and susceptibility to age-related cataract: a meta-analysis. 25873778 2015
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. 17466625 2007
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.100 GeneticVariation disease BEFREE XPD/ERCC2 polymorphisms and risk of head and neck cancer: a case-control analysis. 11133811 2000
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.100 GeneticVariation disease BEFREE XPD/ERCC2 polymorphisms and risk of head and neck cancer: a case-control analysis. 11133811 2000
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		0.330 GeneticVariation group LHGDN XPD polymorphism and risk of subsequent cancer in individuals with nonmelanoma skin cancer. 15298945 2004
CUI: C0085183
Disease: Neoplasms, Second Primary
Neoplasms, Second Primary 		0.010 GeneticVariation phenotype LHGDN XPD polymorphism and risk of subsequent cancer in individuals with nonmelanoma skin cancer. 15298945 2004
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1.000 Biomarker disease CLINGEN XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalpha. 11955452 2002
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.070 GeneticVariation group LHGDN XPD Lys751Gln polymorphism analysis in women with sporadic breast cancer. 18459458 2007
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.400 GeneticVariation disease BEFREE XPB or XPD missense mutations lead to Xeroderma pigmentosum, Cockayne's syndrome, Trichothiodystrophy, or COFS syndrome, suggesting that DNA repair and transcription defects are responsible for clinical heterogeneity. 23276657 2015
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.900 GeneticVariation disease BEFREE XPB and XPD genetic defects can also cause premature aging with profound neurological defects without increased cancers: Cockayne syndrome (CS) and trichothiodystrophy (TTD). 21571596 2011
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 GeneticVariation disease BEFREE XPB and XPD genetic defects can also cause premature aging with profound neurological defects without increased cancers: Cockayne syndrome (CS) and trichothiodystrophy (TTD). 21571596 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE XPB and XPD genetic defects can also cause premature aging with profound neurological defects without increased cancers: Cockayne syndrome (CS) and trichothiodystrophy (TTD). 21571596 2011
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		0.020 GeneticVariation disease BEFREE XPB and XPD genetic defects can also cause premature aging with profound neurological defects without increased cancers: Cockayne syndrome (CS) and trichothiodystrophy (TTD). 21571596 2011
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 GeneticVariation group BEFREE XPA and XPD and others can cause childhood XP neurological disease with widespread neuronal loss, axonal sensorimotor neuropathy, and dwarfing. 23622385 2013
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.400 GeneticVariation disease BEFREE XPA and XPD and others can cause childhood XP neurological disease with widespread neuronal loss, axonal sensorimotor neuropathy, and dwarfing. 23622385 2013