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: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 GeneticVariation disease BEFREE Erratum to: "Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma". 28331555 2019
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 GeneticVariation disease BEFREE "Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma". 26753011 2016
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 GeneticVariation disease BEFREE Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene. 26763876 2016
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 GermlineCausalMutation disease ORPHANET Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies. 23498719 2013
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 GermlineCausalMutation disease ORPHANET Gender-dependent histone deacetylases injury may contribute to differences in liver recovery rates of male and female mice. 23498780 2013
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 GeneticVariation disease BEFREE Complementary constitutional chromosome and fluorescent in situ hybridization (FISH) analyses of RB1 gene were applied in cases where hereditary retinoblastoma was suspected despite negative detection. 16343894 2006
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 GermlineCausalMutation disease ORPHANET 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: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 GeneticVariation disease BEFREE This paper reports the first clinical experience of preimplantation genetic diagnosis (PGD) for hereditary retinoblastoma using two highly polymorphic microsatellite markers RB1.20 and D13S284, located within and close to the RB1 gene respectively. 12569181 2003
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 GeneticVariation disease BEFREE Our data indicate that lipoma predisposition in hereditary retinoblastoma is not associated with specific RB1 gene mutations but is influenced by modifying factors linked to this gene. 11571558 2001
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 GeneticVariation disease BEFREE We have performed RB1 gene mutation analysis in 45 patients with hereditary retinoblastoma. 10671068 1998
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 GeneticVariation disease BEFREE Germline mutations in the RB1 gene in patients with hereditary retinoblastoma. 8605116 1995
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 GeneticVariation disease BEFREE We have performed a mutation survey of the RB1 gene in 232 patients with hereditary or non hereditary retinoblastoma. 7795591 1995
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 GeneticVariation disease BEFREE 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: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 GeneticVariation disease BEFREE Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. 7927327 1994
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 GeneticVariation disease BEFREE By using three independent sets of amplification reactions, which cover 26% of the RB1 gene coding region, we identified RB1 gene deletions in the DNA of peripheral blood cells in 3 out of 24 (12.5%) unrelated patients with hereditary retinoblastoma. 1577465 1992
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
0.600 Biomarker disease CTD_human