RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: Eye Neoplasms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		0.040 GeneticVariation group BEFREE Retinoblastoma (RB) is the most common eye tumor in children; it originates from germline and/or somatic mutations that inactivate both alleles of the RB1 gene located on chromosome 13q14. 24412019 2013
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		0.040 GeneticVariation group BEFREE Retinoblastoma is a childhood ocular tumor that develops from loss of functional retinoblastoma protein (pRb) as a result of genetic or epigenetic changes that affect both alleles of the RB1 gene. 23826078 2013
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		0.040 Biomarker group BEFREE The RB1 gene was cloned because its inactivation causes the childhood ocular tumor, retinoblastoma. 20610631 2010
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		0.040 Biomarker group LHGDN Identification of the novel role of pRB in eye cancer. 12461781 2003