Gene: POLH ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5429
Gene Symbol: POLH
POLH 		0.940 GeneticVariation disease 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 		0.940 CausalMutation disease CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
Entrez Id: 5429
Gene Symbol: POLH
POLH 		0.940 CausalMutation disease 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 		0.940 GeneticVariation disease CLINVAR Xeroderma pigmentosum-variant patients from America, Europe, and Asia. 18368133 2008
Entrez Id: 5429
Gene Symbol: POLH
POLH 		0.940 CausalMutation disease 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 		0.940 GeneticVariation disease 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 		0.940 GeneticVariation disease CLINVAR Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation. 11121129 2000