Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 Biomarker GENOMICS_ENGLAND Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman. 30511002

2018
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178

2016
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399

2016
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GermlineCausalMutation ORPHANET Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations. 24130121

2014
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation UNIPROT Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations. 24130121

2014
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 CausalMutation CLINVAR Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations. 24130121

2014
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 Biomarker GENOMICS_ENGLAND Remarkable induction of UV-signature mutations at the 3'-cytosine of dipyrimidine sites except at 5'-TCG-3' in the UVB-exposed skin epidermis of xeroderma pigmentosum variant model mice. 25128761

2014
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 Biomarker CLINGEN Clinical utility gene card for: Xeroderma pigmentosum. 24105368

2014
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation BEFREE Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type. 23630442

2013
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation BEFREE Here, we show that Rad18 is targeted to PCNA by DNA polymerase eta (Polη), the XPV gene product that is mutated in XPV patients. 23345618

2013
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 Biomarker GENOMICS_ENGLAND Three school-age cases of xeroderma pigmentosum variant type. 23651273

2013
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation BEFREE DNA polymerase eta (Poleta) is unique among eukaryotic polymerases in its proficient ability for error-free replication through ultraviolet-induced cyclobutane pyrimidine dimers, and inactivation of Poleta (also known as POLH) in humans causes the variant form of xeroderma pigmentosum (XPV). 20577207

2010
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation CLINVAR Xeroderma pigmentosum-variant patients from America, Europe, and Asia. 18368133

2008
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 CausalMutation CLINVAR Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type. 18703314

2008
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation BEFREE The IP analysis of the POLH protein revealed a very useful method for screening the patients suspected of XPV. 17344931

2007
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation CLINVAR Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. 17344931

2007
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 Biomarker CLINGEN UV-B radiation induces epithelial tumors in mice lacking DNA polymerase eta and mesenchymal tumors in mice deficient for DNA polymerase iota. 17015482

2006
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 Biomarker MGD Increased susceptibility to UV-induced skin carcinogenesis in polymerase eta-deficient mice. 16397220

2006
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 Biomarker CLINGEN Increased susceptibility to UV-induced skin carcinogenesis in polymerase eta-deficient mice. 16397220

2006
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 Biomarker MGD Contribution of DNA polymerase eta to immunoglobulin gene hypermutation in the mouse. 15824086

2005
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 Biomarker MGD Different mutation signatures in DNA polymerase eta- and MSH6-deficient mice suggest separate roles in antibody diversification. 15939880

2005
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation UNIPROT Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. 11773631

2002
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation UNIPROT Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. 11032022

2000
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation UNIPROT Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation. 11121129

2000
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 GeneticVariation CLINVAR Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation. 11121129

2000