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 Biomarker disease GENOMICS_ENGLAND Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy. 28338660 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C2608045
Disease: Trilateral Retinoblastoma
Trilateral Retinoblastoma 		0.400 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
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 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 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 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 UNIPROT Genetics of retinoblastoma: a study. 9140452 1997
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease UNIPROT Identification of four novel RB1 germline mutations in Korean retinoblastoma patients. 11524739 2001
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease UNIPROT To determine the frequency and nature of constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma, we analyzed DNA from peripheral blood and from tumor tissue. 9311732 1997
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease UNIPROT Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma. 7795591 1995
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease UNIPROT Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. 7927327 1994
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease UNIPROT 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: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease UNIPROT We have analysed the 14 CGAarg codons in the RB1 gene for mutations in 113 patients with bilateral retinoblastoma. 7704558 1994
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease UNIPROT Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene. 8776589 1996
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease UNIPROT Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. 2594029 1989
CUI: C0032019
Disease: Pituitary Neoplasms
Pituitary Neoplasms 		0.210 Biomarker group RGD Here we report a decreased level of pRb in pituitary tumors of the Fischer 344 rat as compared with resistant Sprague Dawley and Brown-Norway strains. pRb protein levels decreased 70% in Fischer 344 rats that were treated with diethylstilbestrol for 10 weeks as compared with tumor resistant control animals. 10022766 1998
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		0.200 Biomarker disease RGD Acute renal failure during sepsis: potential role of cell cycle regulation. 19428114 2009
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.720 SomaticCausalMutation disease ORPHANET Comprehensive genomic profiles of small cell lung cancer. 26168399 2015
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 GeneticVariation disease ORPHANET Osteosarcoma following retinoblastoma: age at onset and latency period. 11449317 2001
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 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 GermlineCausalMutation disease ORPHANET Gender-dependent histone deacetylases injury may contribute to differences in liver recovery rates of male and female mice. 23498780 2013
CUI: C3151302
Disease: Chromosome 13q14 deletion syndrome
Chromosome 13q14 deletion syndrome 		0.300 ChromosomalRearrangement disease ORPHANET Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions. 21505449 2011