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 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 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 Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. 7704558 1994
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations. 12955724 2003
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Evaluation of in silico splice tools for decision-making in molecular diagnosis. 18449911 2008
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 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 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 GeneticVariation group CLINVAR Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients. 15605413 2005
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 Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. 2594029 1989
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. 14722923 2004
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype. 1352883 1992
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Detection of mosaic RB1 mutations in families with retinoblastoma. 19280657 2009
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 GeneticVariation group CLINVAR Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. 15884040 2005
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma. 12402348 2002
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma. 20090211 2009
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR "Identification of three novel RB1 mutations in Brazilian patients with retinoblastoma by ""exon by exon"" PCR mediated SSCP analysis." 15166261 2004
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations. 23532519 2013
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. 16463005 2006
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients. 15605413 2005
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Phenotypic variability of retinocytomas: preregression and postregression growth patterns. 22328814 2012
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Three novel germline mutations in exons 8 and 18 of the retinoblastoma gene. 7981694 1994
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Growth suppression by an E2F-binding-defective retinoblastoma protein (RB): contribution from the RB C pocket. 9632788 1998