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 GeneticVariation disease BEFREE Retinoblastoma (RB) is a childhood eye tumor, caused by the RB1 gene mutation. 31781967 2020
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE The der(X) region harboring the RB1 gene was inactivated in a subset of somatic cells, including the retinal cells, in the patient subject which acted as the first hit in the development of her retinoblastoma. 31806026 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 PosttranslationalModification disease BEFREE Retinoblastoma (RB), which represents the most common childhood eye cancer, is caused by biallelic inactivation of RB1 gene. 30427563 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE The retinoblastoma RB1 gene has been identified in the 80s as the first tumor suppressor. 31176618 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE This study might be an important report on emphazing the mutational status of other genes in patients without RB1 gene mutations and having high risk for developing Rb. 31207142 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 AlteredExpression disease BEFREE Retinoblastoma (Rb) results from biallelic inactivation of the RB1 gene. 30031154 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is a pediatric ocular cancer which is caused due to the aberrations in the RB1 gene. 29742327 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is a pediatric intraocular tumor caused by mutations in retinoblastoma (RB1) gene. 29579639 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE This is especially important for survivors of heritable cancers such as retinoblastoma (childhood eye cancer), where survivors who carry a germline mutation in the RB1 gene are at increased risk of second cancers in adulthood, and of passing on the disease risk to future offspring. 29379195 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 AlteredExpression disease BEFREE In human primary retinoblastoma, high expression of UHRF1 and XRCC4 could be detected, and elevated XRCC4 expression correlated with reduced apoptosis markers, implying that UHRF1-mediated XRCC4 upregulation under pathophysiological conditions triggered by RB1 gene inactivation may confer protection against endogenous DNA damages that arise during retinoblastoma development. 29415984 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE RB1 gene screening aids clinical management and genetic counselling in retinoblastoma families. 29851531 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Although RB1 gene mutation underlies the development of retinoblastoma and many other systemic cancers, RB1 gene mutation in a brain tumor is mainly limited to infiltrating gliomas. 30053065 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE About 1/3 of retinoblastoma patients harbor a germline RB1 mutation or deletion, leading to the development of retinoblastoma. 29414415 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Herein we are evaluating the oncogenic mutations in the RB1 gene and the inheritance patterns of RB in the Jordanian patients. 28803391 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 PosttranslationalModification disease BEFREE Here, we show that SUV39H1-mediated H3K9 trimethylation facilitates retinoblastoma ( RB) 1 promoter CpG island methylation by interacting with DNA methyltransferase 3A and decreasing RB mRNA and protein in melanoma cells. 29750576 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 Biomarker disease BEFREE Together, our work provides a human pluripotent cell model for retinoblastoma and sheds light on developmental and tumorigenic roles of RB1. 28392220 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 CausalMutation disease CLINVAR De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. 28193182 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE These results establish that high MYCN amplification can be present in retinoblastoma with or without coding sequence mutations in the RB1 gene. 28211617 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. 28575107 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 Biomarker disease GENOMICS_ENGLAND Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy. 28338660 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 CausalMutation disease CLINVAR RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling. 29261756 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 CausalMutation disease CLINVAR Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. 28575107 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling. 29261756 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE The C allele together with a germ-line RB1 gene mutation may speed retinoblastoma onset which suggests that mir-34b/c rs4938723T > C may represent a candidate biomarker for hereditary RB. 28106538 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 Biomarker disease BEFREE The pathogenesis of Rb1 gene inactivation indicates that gene therapy could be a promising treatment for retinoblastoma. 28713896 2017