RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan. 28803391 2018
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Genetic screening in Iranian patients with retinoblastoma. 27983729 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. 28575107 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. 27582626 2016
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Molecular diagnosis in patients with retinoblastoma: Report of a series of cases. 27021801 2016
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1. 26925970 2016
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237 2016
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. 25928201 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR RB loss in resistant EGFR mutant lung adenocarcinomas that transform to small-cell lung cancer. 25758528 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma. 25424699 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis. 26396485 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Germline Mutations in Predisposition Genes in Pediatric Cancer. 26580448 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients. 26084579 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism. 25712084 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients. 26084579 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. 25928201 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients. 24688104 2014
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Spectrum of RB1 mutations identified in 403 retinoblastoma patients. 24225018 2014
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations. 24791139 2014
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis. 22963398 2013
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Rapid detection of RB1 recurrent mutations in retinoblastoma by ARMS-PCR. 23981928 2013
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations. 23532519 2013