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: C0007097
Disease: Carcinoma
Carcinoma
0.370 AlteredExpression group BEFREE Cutaneous neuroendocrine (Merkel cell) carcinoma most often arises de novo in the background of a clonally integrated virus, the Merkel cell polyomavirus, and is notable for positive expression of retinoblastoma 1 (RB1) protein and low expression of p53 compared with the rare Merkel cell polyomavirus-negative Merkel cell carcinomas. 26022453 2015
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.370 Biomarker group CTD_human Deregulation of the cyclin D1/Cdk4 retinoblastoma pathway in rat mammary gland carcinomas induced by the food-derived carcinogen 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 14522882 2003
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.370 Biomarker group BEFREE One-third of bladder carcinomas surveyed also carry altered or absent p105-Rb. 2181449 1990
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.370 GeneticVariation group BEFREE In virus-positive tumors, a portion of the viral genome, the large T antigen, may inactivate RB1, and in virus-negative Merkel cell carcinomas truncating mutations in the RB1 gene have been identified. 25446844 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.370 GeneticVariation group BEFREE Allelic loss at TP53 seems to arise independently of LOH at the RB1 gene in carcinomas of the uterine corpus in humans. 16293976 2005
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.370 GeneticVariation group BEFREE No alterations in exon 21 of the RB1 gene in sarcomas and carcinomas of the breast, colon, and lung. 1381957 1992
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.370 GeneticVariation group BEFREE Inactivation of pRB by gross structural alterations or point mutations in the RB-1 gene has been described in a variety of human tumors, including retinoblastomas, osteosarcomas, and small cell lung carcinomas. 9192669 1997
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.370 GeneticVariation group BEFREE Our data therefore suggest that major alterations affecting the RB1 gene are rather infrequent in human gastric carcinomas. 7947078 1994