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 GeneticVariation disease BEFREE A c.1363C>T (p.R455X) nonsense mutation of RB1 gene in a southern Chinese retinoblastoma pedigree. 20059380 2010
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease LHGDN We have performed RB1 gene mutation analysis in eight patients with familial and/or bilateral retinoblastoma by DNA/RNA sequencing. 11668642 2001
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease UNIPROT We have analyzed the 27 exons and the promoter region of the RB1 gene in familial or sporadic bilateral retinoblastoma by using single-strand conformation polymorphism analysis. 8605116 1995
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma. 25424699 2015
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease CLINVAR Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 12541220 2003
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE The genetic hallmark of retinoblastoma is mutation or deletion of the RB1 gene, whereas other genetic alterations that are also required are largely unknown. 15834944 2005
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Sixty-nine primary soft tissue tumours were examined for alterations of the RB1 gene which has previously been implicated in the genesis of retinoblastoma. 2765366 1989
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease CLINVAR Generation of induced pluripotent stem cells (iPSCs) from a retinoblastoma patient carrying a c.2663G>A mutation in RB1 gene. 27879208 2016
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene. 21615945 2011
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE [S. H. Friend, R. Bernards, S. Rogelj, R. A. Weinberg, J. M. Rapaport, D. M. Albert, and T. P. Dryja, Nature (London) 32:643-646, 1986] reported the cloning of a gene, 4.7R, with some properties expected for the RB1 gene, namely, a high frequency (30%) of genomic rearrangements in tumors and absence of message in all RB tumors examined. 2898730 1988
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 Examples include the RB1 gene for retinoblastoma; the WT1 gene for Wilms' tumor; germline p53 mutations in families with the Li-Fraumeni syndrome; the NF1 and NF2 genes for neuroblastomatosis, types 1 and 2; the VHL gene for renal cancer and other tumors associated with Von Hippel-Lindau disease; the APC gene for adenomatous polyposis coli; the BRCA1 gene for hereditary breast and ovarian cancer; and the mismatch repair genes for colon and other common cancers. 8741802 1995
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 Mutations of the retinoblastoma (RB1) gene are not confined to retinoblastoma, but are also involved in the development of osteosarcoma. 2036639 1991
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 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 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 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