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: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR [Spectrum and frequencies of RB1 gene structural defects in retinoblastoma]. 12173465 2002
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease BEFREE [S. H. Friend, R. Bernards, S. Rogelj, R. A. Weinberg, J. M. Rapaport, D. M. Albert, and T. P. Dryja, Nature (London) 32:643-646, 1986] reported the cloning of a gene, 4.7R, with some properties expected for the RB1 gene, namely, a high frequency (30%) of genomic rearrangements in tumors and absence of message in all RB tumors examined. 2898730 1988
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR [Molecular diagnosis of retinoblastoma: molecular epidemiology and genetic counseling]. 16595082 2006
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GeneticVariation disease LHGDN [Low-penetrance retinoblastoma due to exons 24 and 25 deletions in the Rb1 gene]. 12362308 2002
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 Biomarker disease LHGDN [Genomic retinoblastoma perspectives: implications of tumor supressor gene RB1]. 16315642 2006
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR [Characteristics of RB1 gene mutations in Chinese patients with retinoblastoma]. 24078560 2013
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE With EBV, RB1 methylation was a tumor-associated event because only the cancer group presented methylated RB1 with HPV infection. 26032781 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 Biomarker group BEFREE With EBV, RB1 methylation was a tumor-associated event because only the cancer group presented methylated RB1 with HPV infection. 26032781 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE Wildtype RB1CC1 and RB1 were absent or significantly less abundant than normal in the seven cancers with mutations in RB1CC1, but were abundant in cancers without such mutations. 12068296 2002
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: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 Biomarker disease BEFREE While aberrations in the pRb-signaling pathway are common in human cancers, the consequence of pRb(f) loss in the mammary gland has not been directly assayed in vivo. 14966529 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 Biomarker group BEFREE While RB1 gene is scarcely altered in hematological tumors, the putative tumor suppressor gene(s) on 9p21 appear(s) to be frequently inactivated in some subtypes of cancers derived from hematopoietic tissues. 9130611 1997
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.020 Biomarker group BEFREE While RB1 gene is scarcely altered in hematological tumors, the putative tumor suppressor gene(s) on 9p21 appear(s) to be frequently inactivated in some subtypes of cancers derived from hematopoietic tissues. 9130611 1997
CUI: C0751484
Disease: Sporadic Retinoblastoma
Sporadic Retinoblastoma 		0.330 PosttranslationalModification disease BEFREE Whereas we reconfirmed hypermethylation of the RB1 gene in a sporadic retinoblastoma, no hypermethylation could be detected in the 25 osteosarcoma specimens, suggesting that hypermethylation of the RB1 promoter is not of major importance during osteosarcoma genesis. 14660307 2004
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.400 GeneticVariation group BEFREE When combined with a previous study of chromosome 13 with emphasis on BRCA2 and Rb1 genes, this work allowed to distinguish a total of 12 regions of LOH, variably affected in breast tumors and correlated with prognostic parameters. 9018120 1997
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: C1704423
Disease: Milroy Disease
Milroy Disease 		0.010 GeneticVariation disease BEFREE We report that loss of Rb1 protein and p53 mutations are detectable in 34.7 and 9.8% of MM and PCL primary cases; no lesion was found in MGUS. 8182933 1994
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.080 GeneticVariation disease BEFREE We report that loss of Rb1 protein and p53 mutations are detectable in 34.7 and 9.8% of MM and PCL primary cases; no lesion was found in MGUS. 8182933 1994
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group 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: 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: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.010 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: C1623038
Disease: Cirrhosis
Cirrhosis 		0.010 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 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