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 CausalMutation disease CLINVAR Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 19339519 2009
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 AlteredExpression disease LHGDN Chromosomal imbalances, loss of heterozygosity, and immunohistochemical expression of TP53, RB1, and PTEN in intraductal cancer, intraepithelial neoplasia, and invasive adenocarcinoma of the prostate. 18383208 2008
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Mutations of the Rb1 gene are now commonly believed to be the "cause" retinoblastoma, although epidemiological, clinical, and biological evidences argue against it. 19043380 2008
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma. 21654082 2011
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 AlteredExpression disease BEFREE All these nine tumors did not express RB1 protein, showing an association of LOH at the RB1 locus with its loss of expression in retinoblastoma. 12402348 2002
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE The RB1 gene mutation in a child with ectopic intracranial retinoblastoma. 9400934 1997
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE The mutation analysis presented here may provide a basis for the screening system of RB1 gene mutations in retinoblastoma patients. 8178820 1994
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is a pediatric ocular cancer which is caused due to the aberrations in the RB1 gene. 29742327 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Almost all patients with sporadic bilateral and virtually all patients with familial Rb are heterozygous for RB1 gene mutations that cause predisposition to Rb (hereditary Rb). 20687510 2010
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma. 22180099 2012
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Hereditary predisposition to retinoblastoma is caused by germline mutations in the RB1 gene. 7666401 1995
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is a pediatric intraocular tumor caused by mutations in retinoblastoma (RB1) gene. 29579639 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE RB1 gene mutations in Iranian patients with retinoblastoma: report of four novel mutations. 21763628 2011
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma. 7795591 1995
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 LHGDN Trilateral retinoblastoma with pituitary-hypothalamic dysfunction. 18766991 2008
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 GeneticVariation disease BEFREE Ten novel RB1 gene mutations in patients with retinoblastoma. 17960112 2007
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease UNIPROT The RB1 gene from 12 human retinoblastoma tumors has been analyzed exon-by-exon with the single-strand conformation polymorphism technique. 8346255 1993
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease CLINVAR Genotype-phenotype correlations in hereditary familial retinoblastoma. 17096365 2007
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Retinoblastoma (Rb) is a progressive cancer which mainly occurs in children, and which is caused by different genetic or epigenetic alterations that lead to inactivation of both alleles of the RB1 gene. 26063518 2015
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE The retinoblastoma susceptibility (RB1) gene contains an unmethylated CpG-rich island at its 5' end. 7959682 1994
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 Biomarker disease LHGDN RbAp48 is a critical mediator controlling the transforming activity of human papillomavirus type 16 in cervical cancer. 17616526 2007
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease UNIPROT RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma. 9973307 1999
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 Biomarker disease BEFREE Together, our work provides a human pluripotent cell model for retinoblastoma and sheds light on developmental and tumorigenic roles of RB1. 28392220 2017