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: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 Biomarker disease BEFREE Our findings suggest that RB1 alterations may serve as a prognostic marker for the management of osteosarcoma patients. 26503016 2017
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 Biomarker disease CTD_human Ezrin Inhibition Up-regulates Stress Response Gene Expression. 27137931 2016
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 Biomarker disease BEFREE In conclusion, the present results suggest that RBEL1 modulates cell proliferation and G1‑S transition by inhibiting Rb in osteosarcoma. 26676380 2016
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 Biomarker disease BEFREE The present study examined the expression levels of UHRF1 and retinoblastoma 1 (Rb1) in human osteosarcoma cell lines by western blot analysis. 26548607 2016
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 AlteredExpression disease BEFREE In addition, GCIP overexpression activated retinoblastoma 1 (Rb) and suppressed E2F transcriptional target expression in osteosarcoma cells. 26107195 2015
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 GeneticVariation disease BEFREE A Rb1 promoter variant with reduced activity contributes to osteosarcoma susceptibility in irradiated mice. 25092376 2014
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 GeneticVariation disease BEFREE Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]). 22006429 2012
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 Biomarker disease BEFREE To evaluate the impact of dihydrofolate reductase (DHFR) and reduced folate carrier (RFC) genes on methotrexate (MTX) resistance in osteosarcoma cells in relation to retinoblastoma (RB1) gene status. 14679136 2004
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 PosttranslationalModification disease BEFREE We examined the methylation status of the RB1 gene in 25 osteosarcoma specimens by using the methylation-sensitive restriction enzymes SacII and SmaI. 14660307 2004
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 GeneticVariation disease ORPHANET Osteosarcoma following retinoblastoma: age at onset and latency period. 11449317 2001
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 GeneticVariation disease BEFREE Together, these results demonstrated that amplified c-myc, mutant p53, and RB1 genes seem to be important in osteosarcoma tumorigenicity and that an additional altered gene or genes on chromosome 22 may play a key role in osteosarcoma tumorigenicity. 10331742 1999
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 GeneticVariation disease BEFREE Twenty-one osteosarcomas (2 low-grade and 19 high-grade) were evaluated for homozygous deletion of the CDKN2A gene, CDK4 amplification, and allelic loss of the RB gene, as well as for expression of p16 and pRb proteins. 9665476 1998
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 GeneticVariation disease BEFREE Deletion of Rb1 gene in late osteosarcoma from survivor of unilateral retinoblastoma--a case report. 8703379 1996
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 Biomarker disease BEFREE RB1 gene is also of major importance for the tumorigenesis of OS. 7479379 1995
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 GeneticVariation disease BEFREE This deletion may indicate that loss of RB1 gene (locus in 13q14) may be involved in the development of radiation-induced osteosarcoma. 8374897 1993
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 GeneticVariation disease BEFREE In addition, analysis of RB1 expression and of RB1 mutations in different tumors leads to the following dilemma: while the RB1 gene product, p110RB1, is expressed in most dividing cells, germline mutations inactivating the function of p110RB1 predispose primarily to retinoblastoma and to a lesser extent to osteosarcoma, but do not predispose to cancer in general. 8344484 1993
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 GeneticVariation disease BEFREE In summary, 7/14 or 6/8 cases of osteosarcomas (including only those cases which allowed both analyses) showed RB1 gene alteration. 1524989 1992
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 GeneticVariation disease BEFREE Structural aberrations within the RB1 gene have been studied in fresh samples of eleven cases of osteosarcoma. 2036639 1991
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 Biomarker disease BEFREE This suggests that loss of the RB1 gene or an OSRC gene closely linked to the ESD and RB1 gene loci is involved in the development of the osteosarcoma tumor. 2878716 1987
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 Biomarker disease HPO
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.700 CausalMutation disease CLINVAR