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: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 GeneticVariation disease BEFREE Advanced-stage HCC (BCLC B/C) showed higher frequencies of splicing factor 3b subunit 1 (SF3B1) (P = 0.0003), TP53 (P = 0.0006), and RB Transcriptional Corepressor 1 mutations (P = 0.03). 31206197 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 GeneticVariation disease BEFREE Altogether, 40% of the HCC specimens (16/40) showed hyper- or hypomethylation at the CpG island in intron 2 of the RB1 gene. 24838394 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 Biomarker disease BEFREE Cell cycle control involving RB1 gene-related cell inhibitors is one of the main regulatory pathways were reported to be altered in hepatocellular carcinoma (HCC). 24254306 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 Biomarker disease BEFREE Two of the 26 HCC and one of the 9 HB showed >10% tumour nuclear staining for pRb protein. 24935581 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 AlteredExpression disease BEFREE Key mechanisms underlying the effect of PPARγ in HCC include upregulation of cell adhesion genes, E-cadherin and SYK (spleen tyrosine kinase), extracellular matrix regulator tissue inhibitors of metalloproteinase (TIMP) 3, tumour suppressor gene retinoblastoma 1, and downregulation of pro-metastatic genes MMP9 (matrix metallopeptidase 9), MMP13, HPSE (heparanase), and Hepatocyte growth factor (HGF). 22472882 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 PosttranslationalModification disease LHGDN Effect of promoter methylation of the p16 gene on phosphorylation of retinoblastoma gene product and growth of hepatocellular carcinoma cells. 16254459 2005
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 PosttranslationalModification disease BEFREE All 24 HCCs with RB1 promoter methylation lacked RB1 expression, while none of the 67 cases with RB1 expression exhibited RB1 methylation (p < 0.0001), suggesting that promoter methylation is a major mechanism of loss of RB1 expression in HCCs. 12845670 2003
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 Biomarker disease BEFREE We investigated p14(ARF), p15(INK4B), p16(INK4A), p18(INK4C), and RB1 genes in a series of HCCs and associated cirrhosis with the goal of ascertaining their pattern of inactivation by gene methylation. 12143052 2002
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 Biomarker disease CTD_human Cell cycle deregulation in liver lesions of rats with and without genetic predisposition to hepatocarcinogenesis. 12029619 2002
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 Biomarker disease CTD_human Retinoblastoma gene mutations in chemically induced liver tumor samples of Japanese medaka (Oryzias latipes). 14961299 2001
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 GeneticVariation disease BEFREE These findings are applicable to HCC with abberrations of both p53 and pRb genes, and may not represent the universal effects of p53 in hepatic cells. 10952243 2000
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 GeneticVariation disease BEFREE Allelic alteration of the Rb-1 gene was observed in two cases, deletion of both alleles in the hepatocellular carcinoma component of case 3 (combined type) and replication error of the same pattern in both components of case 4 (mixed type). 8957064 1996
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 GeneticVariation disease BEFREE Deletions of chromosome 13q, mutations in Retinoblastoma 1, and retinoblastoma protein state in human hepatocellular carcinoma. 8033150 1994