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 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 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 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 GeneticVariation disease BEFREE This is especially important for survivors of heritable cancers such as retinoblastoma (childhood eye cancer), where survivors who carry a germline mutation in the RB1 gene are at increased risk of second cancers in adulthood, and of passing on the disease risk to future offspring. 29379195 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE In this report we illustrate the use of the PCR technique in the genetic characterization of the RB1 gene and its application to the study of RB. 9104770 1997
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE The familial form of RB occurs as the result of a germline mutation of one of the copies of the Rb1 gene. 1314630 1992
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Hereditary retinoblastoma constitutes a cancer predisposition syndrome: a subject constitutionally carrying an RB1 gene mutation has a greater than 90% risk of developing retinoblastoma but is also at increased risk of developing other types of cancers.Diagnosis is made by fundoscopy. 16934146 2006
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE The der(X) region harboring the RB1 gene was inactivated in a subset of somatic cells, including the retinal cells, in the patient subject which acted as the first hit in the development of her retinoblastoma. 31806026 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE To describe the documented growth, clinical course, and histopathology of retinoblastomas in an untreated and otherwise normal right eye of a 27-year-old white male with a g.153211T>A (p.Tyr606X) mutation in the retinoblastoma 1 gene, whose left eye was enucleated at age 2 years for 2 retinoblastomas. 16631255 2006
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma. 26539030 2015
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 GeneticVariation disease BEFREE These results establish that high MYCN amplification can be present in retinoblastoma with or without coding sequence mutations in the RB1 gene. 28211617 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. 28575107 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease UNIPROT Hereditary predisposition to retinoblastoma is caused by germline mutations in the RB1 gene. 10671068 1998
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Retinoblastoma (Rb) is a childhood tumor (~1 in 20,000 live births) developing in the retina due to mutations in the RB1 gene. 25754945 2015
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) tumors arise when both alleles of the RB1 gene are inactivated by two mutational events (M1 and M2). 1544317 1992
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Analysis of clinical breast cancer samples showed that most of the cells contained two copies of the RB1 gene, even when restriction fragment length polymorphism analysis showed loss of heterozygosity (LOH) at the RB1 locus. 1354594 1992
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is the most common malignant childhood tumor of the eye and results from inactivation of both alleles of the RB1 gene. 26530098 2015
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression. 18181215 2008