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: C0750887
Disease: Adrenal Cancer
Adrenal Cancer 		0.300 Biomarker disease CTD_human Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. 24747643 2014
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms 		0.300 Biomarker group CTD_human Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. 24747643 2014
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.010 Biomarker disease BEFREE Together, these data indicate that RB dysfunction converts TGF-β to a mitogen that activates known oncogenic signaling pathways and upregulates Wnt7b, which synergize to promote PCC invasion, survival, and mitogenesis. 24334458 2014
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.300 Biomarker disease CTD_human Integrated genomic characterization of adrenocortical carcinoma. 24747642 2014
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 Biomarker disease BEFREE The multiplex ligation-dependent probe amplification (MLPA) method was used to detect the copy number alterations (CNAs) of IKAROS family zinc finger 1 (<i>IKZF1</i>), paired box 5 (<i>PAX5</i>), ETS variant 6 (<i>ETV6</i>), RB transcriptional corepressor 1 (<i>RB1</i>), BTG anti-proliferation factor 1 (<i>BTG1</i>), early B-cell factor 1 (<i>EBF1</i>), cyclin dependent kinase inhibitor 2A/2B (<i>CDKN2A/2B</i>) and cytokine receptor like factor 2 (<i>CRLF2</i>) genes in 87 adults with acute lymphoblastic leukemia (ALL) in China. 29552179 2018
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 GeneticVariation disease BEFREE Structural abnormalities of the RB-1 gene were reported in 18% of ALL-patients and in 27% of Philadelphia chromosome-positive ALL, respectively. 9517499 1998
CUI: C0280483
Disease: Adult Anaplastic Astrocytoma
Adult Anaplastic Astrocytoma 		0.010 PosttranslationalModification disease BEFREE In patients with multiple biopsies, methylation of the RB1 promoter was not detectable in the less malignant precursor lesions, ie, low-grade diffuse and anaplastic astrocytoma. 11204276 2001
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 GeneticVariation disease BEFREE Tumor types were characterized by specific broad and focal chromosomal events including focal loss of the INK4A/B locus in glioblastoma and loss of the RB1 gene and amplification of the PDGFRA gene in oligodendrogliomas. 27251041 2016
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 GeneticVariation disease BEFREE Aberrant DNA methylation at the RB1 gene has been reported in sporadic retinoblastoma as well as other cancers including glioblastoma, hepatocellular carcinoma, and breast cancer. 29468542 2018
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 GeneticVariation disease BEFREE Loss of the RB1 gene at 13q14.2 was detected in one blastic natural killer cell lymphoma with 13q loss using a gene dosage assay, and in one cutaneous natural killer-like T cell lymphoma without 13q loss using fluorescent in situ hybridization. 12925224 2003
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		0.010 AlteredExpression disease BEFREE Further, previous studies have shown that the mechanism of effect of miR-335 on the proliferation of meningioma cells is associated with alterations in the expression of human retinoblastoma 1 (Rb1). 22886530 2012
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma 		0.010 Biomarker disease BEFREE The RB-1 gene is a tumour suppressor gene, but other loci including D13S319 and D13S25 telomeric to this within 13q14.3 are deleted in B-cell chronic lymphocytic leukaemia (B-CLL), multiple myeloma and non-Hodgkin's lymphoma, with varying clinical significance. 11529851 2001
CUI: C0281332
Disease: Adult Pineoblastoma
Adult Pineoblastoma 		0.010 GeneticVariation disease BEFREE Pineal parenchymal tumours: II. On the aggressive behaviour of pineoblastoma in patients with an inherited mutation of the RB1 gene. 15214647 2004
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		0.030 AlteredExpression disease BEFREE Analyses of messenger RNA (mRNA) and protein expression and immunohistochemical studies were performed on 11 rhabdomyosarcoma cell lines from patients with no family history of retinoblastoma, and RB1 protein expression was studied by immunoprecipitation in primary tumor biopsy tissue from 18 patients with sporadic rhabdomyosarcoma (five embryonal and 13 alveolar). 8418305 1993
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		0.030 GeneticVariation disease BEFREE Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype. 18386058 2008
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		0.030 GeneticVariation disease BEFREE Using a probe that detects a polymorphic locus within the RB1 gene we found loss of only one allele (heterozygous deletion) in 33% of soft tissue sarcomas examined, including two leiomyosarcomas, a malignant peripheral nerve sheath tumour, a rhabdomyosarcoma and a chondrosarcoma. 2765366 1989
CUI: C1368898
Disease: Adult Teratoma
Adult Teratoma 		0.010 AlteredExpression disease BEFREE Teratoma analysis further revealed a role for the transcription factor ZEB1 in RB1-mediated ectoderm differentiation. 28392220 2017
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised 		0.100 Biomarker phenotype HPO
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.010 GeneticVariation disease BEFREE Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype. 18386058 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 PosttranslationalModification disease BEFREE We have recently reported the existence of a molecular link between decreased p27 levels and enhanced phosphorylation of pRb protein and proliferation of immortalized lymphocytes from Alzheimer's disease (AD) patients. 17448572 2008
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		0.010 PosttranslationalModification disease BEFREE In patients with multiple biopsies, methylation of the RB1 promoter was not detectable in the less malignant precursor lesions, ie, low-grade diffuse and anaplastic astrocytoma. 11204276 2001
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma 		0.300 Biomarker disease 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: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms 		0.300 Biomarker phenotype 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: C3179508
Disease: Aplasia/Hypoplasia of the thumb
Aplasia/Hypoplasia of the thumb 		0.100 Biomarker phenotype HPO
CUI: C0003962
Disease: Ascites
Ascites 		0.010 PosttranslationalModification phenotype LHGDN Cellular thiol status-dependent inhibition of tumor cell growth via modulation of p27(kip1) translocation and retinoblastoma protein phosphorylation by 1'-acetoxychavicol acetate. 17031475 2007