RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 Biomarker disease BEFREE Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. 25928201 2015
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. 25928201 2015
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis. 26396485 2015
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma. 26539030 2015
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease CLINVAR Spectrum of RB1 mutations identified in 403 retinoblastoma patients. 24225018 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Identification of oncogenic mutations in the RB1 gene aids in the clinical management of families with a heritable predisposition to RB. 24225018 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma. 24336570 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations. 24791139 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Familial retinoblastoma is a highly penetrant genetic disease that usually develops by carrying germline mutations that inactivate one allele of the RB1 gene, leading to multiple retinoblastomas. 24858910 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR Spectrum of RB1 mutations identified in 403 retinoblastoma patients. 24225018 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients. 24688104 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 AlteredExpression disease BEFREE Retinoblastoma (Rb) is a childhood cancer of the retina, commonly initiated by biallelic inactivation of the RB1 gene. 24688104 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations. 24791139 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE We also analyzed the RB1 gene mutations and compared the mechanism of RB1 inactivation to the recurrent copy number variations in the retinoblastoma genome. 24509483 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis. 22963398 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease CLINVAR Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations. 23532519 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Mutation of the RB1 gene is necessary but not sufficient for the development of retinoblastoma. 23756868 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay. 22909775 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Screening for large rearrangements of the RB1 gene in Iranian patients with retinoblastoma using multiplex ligation-dependent probe amplification. 23441118 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 Biomarker disease BEFREE Molecular screening was carried out by direct sequencing of the 27 RB1 exons and flanking regions in blood DNA of 71 patients with retinoblastoma and 4 relatives with retinoma, and with multiplex ligation-dependent probe amplification (MLPA) in 21 patients. 23532519 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is the most common eye tumor in children; it originates from germline and/or somatic mutations that inactivate both alleles of the RB1 gene located on chromosome 13q14. 24412019 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR [Characteristics of RB1 gene mutations in Chinese patients with retinoblastoma]. 24078560 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 AlteredExpression disease BEFREE Retinoblastoma is a childhood cancer of the developing retina that initiates with biallelic inactivation of the RB1 gene. 23765217 2013