Disease: Xeroderma Pigmentosum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 GeneticVariation disease LHGDN Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC. 18809580 2008
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 GeneticVariation disease BEFREE Xeroderma pigmentosum type C (XPC) is a rare autosomal recessive disorder that occurs due to inactivation of the XPC protein, an important DNA damage recognition protein involved in DNA nucleotide excision repair (NER). 18202716 2008
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 GeneticVariation disease BEFREE Mutations in XPC lead to a defect in NER and to xeroderma pigmentosum (XP-C). 18809580 2008
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 GeneticVariation disease LHGDN Polymorphisms of the DNA repair gene xeroderma pigmentosum groups A and C and risk of esophageal squamous cell carcinoma in a population of high incidence region of North China. 17653764 2008
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 Biomarker disease BEFREE Nuclear extracts from NER-deficient xeroderma pigmentosum (XP) cells, XPA and XPC, were less active at repairing pyridyloxobutyl adducts than were extracts from normal cells, while combining NER-deficient extracts reconstituted activity. 18037231 2008
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 GeneticVariation disease BEFREE We have studied 11 polymorphisms in genes of drug detoxification pathways (NQO1, glutathione S-transferase pi) and DNA repair xeroderma pigmentosum, complementation group (3) (XPC(3), X-ray repair cross complementing protein (1)), Nijmegen breakage syndrome (1), excision repair cross-complementing rodent repair deficiency, complementation group (5) and X-ray repair cross complementing protein (3) and in the methylene tetrahydrofolate reductase gene (MTHFR(2), 677C>T, 1298A>C), involved in DNA synthesis. 17476281 2007
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 CausalMutation disease CLINVAR A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC. 17079196 2007
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 GeneticVariation disease BEFREE A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC. 17079196 2007
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 CausalMutation disease CLINVAR Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. 16081512 2006
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 GeneticVariation disease LHGDN A novel complex insertion/deletion mutation in the XPC DNA repair gene leads to skin cancer in an Iraqi family. 16794584 2006
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 GeneticVariation disease LHGDN Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. 16081512 2006
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 AlteredExpression disease BEFREE Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. 16081512 2006
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 Biomarker disease BEFREE In this study, we used an epidemiological approach to analyze an animal database of DNA repair deficient mice on reproductive performance in five Nucleotide Excision Repair (NER) mutant mouse models on a C57BL/6 genetic background, namely CSA, CSB, XPA, XPC [models for the human DNA repair disorders Cockayne Syndrome (CS) and xeroderma pigmentosum (XP), respectively] and mHR23B (not associated with human disease). 16315091 2005
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 GeneticVariation disease BEFREE In this report, we investigate the relationship between xeroderma pigmentosum complementary group C poly (AT) insertion/deletion polymorphism (XPC-PAT) of the XPC gene and lung cancer risk in a hospital-based case-control study of 359 newly diagnosed lung cancer patients and 375 control subjects matched on age, sex, and catchment area. 15533908 2004
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 Biomarker disease BEFREE On the other hand, confluent primary XPC and trichothiodystrophy (TTD)/XPD cell lines, related to xeroderma pigmentosum and trichothiodystrophy repair syndromes, had a reduced and delayed apoptosis when compared to non-confluent cells. 14644317 2003
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 GeneticVariation disease BEFREE XPC DNA repair gene mutations result in the cancer-prone disorder xeroderma pigmentosum. 12177305 2002
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 GeneticVariation disease BEFREE These findings indicate that the XPC gene is not essential for cell proliferation and viability and that mutations causing minor structural alterations may not give an XP phenotype and may not, therefore, be identified clinically. 10766188 2000
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 CausalMutation disease CLINVAR Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life. 11121128 2000
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 Biomarker disease MGD High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC. 7675084 1995
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 Biomarker disease BEFREE The previously cloned XPC gene is involved in the common XP complementation group C, which is defective in excision repair of non-transcribed sequences in the genome. 7851894 1994
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.700 GeneticVariation disease BEFREE The human gene XPC (formerly designated XPCC), which corrects the repair deficiency of xeroderma pigmentosum (XP) group C cells, was mapped to 3p25. 8088800 1994