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: C0024622
Disease: Malignant neoplasm of retina
Malignant neoplasm of retina 		0.010 GeneticVariation disease BEFREE Retinoblastoma is a malignant tumor of the retina in children <5 years of age and occurs after two mutations in the RB1 gene. 26753011 2016
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.010 Biomarker 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: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		0.010 PosttranslationalModification phenotype BEFREE No correlations between H. pylori negative-IM and GC groups and between GC and control groups were detected in methylation status of RB1 gene. 27629734 2016
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		0.010 GeneticVariation disease BEFREE Alteration in Methylation Pattern of Retinoblastoma 1 Gene Promotor Region in Intestinal Metaplasia with or without Helicobacter pylori and Gastric Cancer Patients. 27629734 2016
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.010 Biomarker 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: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 AlteredExpression disease BEFREE AR activity was inversely associated with cell proliferation, whereas the expression of Fanconi anemia (FA)-complex genes was correlated with elevated cell cycle progression, expression of the E2F transcription factor 1 (E2F1) and loss of retinoblastoma 1 (RB1). 26928463 2016
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		0.010 PosttranslationalModification group BEFREE Our aim was to analyze the gene promoter methylation frequency of RB1 and CDH1 and verify the association between that methylation frequency and HPV and EBV infection in cervical lesions. 26032781 2015
CUI: C0206695
Disease: Carcinoma, Neuroendocrine
Carcinoma, Neuroendocrine 		0.010 AlteredExpression disease BEFREE Herein, we studied 10 combined cutaneous squamous cell and neuroendocrine carcinomas for immunohistochemical expression of p53, retinoblastoma 1 protein, neurofilament, p63, and cytokeratin 20 (CK20). 26022453 2015
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		0.010 Biomarker disease BEFREE With EBV, RB1 methylation was a tumor-associated event because only the cancer group presented methylated RB1 with HPV infection. 26032781 2015
CUI: C1096184
Disease: West Nile viral infection
West Nile viral infection 		0.010 AlteredExpression disease BEFREE We used short interfering RNAs to decrease the levels of glycogen synthase kinase-3 beta, bifunctional polynucleotide phosphatase/kinase, and retinoblastoma 1 and found that the activity of nuclear factor kappa B (p65) is significantly decreased in WNV-infected U251 cells, which in turn led to markedly reduced inflammatory cytokine production. 26485063 2015
CUI: C0018915
Disease: Hemangioendothelioma
Hemangioendothelioma 		0.010 GeneticVariation disease BEFREE De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver. 24433316 2014
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.010 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: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.010 PosttranslationalModification disease BEFREE RB1 promoter methylation analysis revealed that 16% of its cytosines (3% in CpG) were methylated in the HNC tumor samples. 24888624 2014
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis 		0.010 GeneticVariation disease BEFREE There is also loss of pRb expression in the majority of HCC and HB, supporting loss of pRb gene function in the hepatocarcinogenesis pathway. 24935581 2014
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		0.010 GeneticVariation disease BEFREE We present clinical and imaging features along with pedigree of this unique case of synchronous primary LMS involving the small bowel and inferior vena cava in a patient with RB1 gene mutation and a significant family history of multiple malignancies. 22581272 2014
CUI: C1863753
Disease: LIMB-MAMMARY SYNDROME
LIMB-MAMMARY SYNDROME 		0.010 GeneticVariation disease BEFREE We present clinical and imaging features along with pedigree of this unique case of synchronous primary LMS involving the small bowel and inferior vena cava in a patient with RB1 gene mutation and a significant family history of multiple malignancies. 22581272 2014
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 PosttranslationalModification disease BEFREE RB1 promoter methylation analysis revealed that 16% of its cytosines (3% in CpG) were methylated in the HNC tumor samples. 24888624 2014
CUI: C3888391
Disease: Nonnuclear polymorphic congenital cataract
Nonnuclear polymorphic congenital cataract 		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: 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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 GeneticVariation disease BEFREE Whole-germline monoallelic deletions of the RB1 gene (6% of RB1 mutational spectrum) sometimes cause a variable degree of psychomotor delay and several dysmorphic abnormalities. 22909775 2013
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: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		0.010 GeneticVariation disease BEFREE Our analysis defined and validated 495 genes exhibiting significant differences in CRPC in gene copy number, including gains in androgen receptor (AR) and losses of PTEN and retinoblastoma 1 (RB1). 22158653 2012
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
Meningioma, benign, no ICD-O subtype 		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: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		0.010 GeneticVariation disease BEFREE Retinoblastoma arises from a deregulation of cellular events secondary to inactivation of both RB1 gene alleles, whereas Peters anomaly has been linked to eye-development genes and chromosomal anomalies. 20451864 2010
CUI: C0206650
Disease: Fibroadenoma
Fibroadenoma 		0.010 AlteredExpression disease BEFREE Protein levels of PRA and PRB were higher in fibroadenomas compared to normal breast tissue (P = 0.038 and P = 0.031), while the PRs mRNA levels were similar in both tissues (P = 0.721 and P = 0.139). 19367380 2009