RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: Retinoblastoma bilateral ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854914
Disease: Retinoblastoma bilateral
Retinoblastoma bilateral 		0.080 GeneticVariation disease BEFREE We have generated induced pluripotent stem cell line VRFi001-A from a bilateral retinoblastoma patient with heterozygous RB1 gene deletion. 29579639 2018
CUI: C0854914
Disease: Retinoblastoma bilateral
Retinoblastoma bilateral 		0.080 Biomarker disease BEFREE RB1 gene screening of an 8-month-old female child with bilateral retinoblastoma was accomplished using next generation sequencing. 26914665 2016
CUI: C0854914
Disease: Retinoblastoma bilateral
Retinoblastoma bilateral 		0.080 GeneticVariation disease BEFREE We describe bilateral retinoblastoma in an 8-year-old girl presenting with macular tumor in one eye and a small peripheral tumor in the other but no detected RB1 gene mutation. 25266839 2014
CUI: C0854914
Disease: Retinoblastoma bilateral
Retinoblastoma bilateral 		0.080 GeneticVariation disease BEFREE We have performed RB1 gene mutation analysis in eight patients with familial and/or bilateral retinoblastoma by DNA/RNA sequencing. 11668642 2001
CUI: C0854914
Disease: Retinoblastoma bilateral
Retinoblastoma bilateral 		0.080 GeneticVariation disease BEFREE In screening the leukocyte DNA of three patients with bilateral retinoblastoma for RB1-gene heterozygous germline mutations, we identified mutations involving exon 3 or 18 of the RB1 gene by using heteroduplex analysis and sequencing. 8926652 1995
CUI: C0854914
Disease: Retinoblastoma bilateral
Retinoblastoma bilateral 		0.080 GeneticVariation disease BEFREE Independent constitutional germline mutations occurring in the RB1 gene in cousins with bilateral retinoblastoma. 7675457 1995
CUI: C0854914
Disease: Retinoblastoma bilateral
Retinoblastoma bilateral 		0.080 GeneticVariation disease BEFREE We have analysed the 14 CGAarg codons in the RB1 gene for mutations in 113 patients with bilateral retinoblastoma. 7704558 1994
CUI: C0854914
Disease: Retinoblastoma bilateral
Retinoblastoma bilateral 		0.080 GeneticVariation disease BEFREE DNA samples from 92 unrelated patients with bilateral retinoblastoma were analyzed by Southern blot hybridization with cDNA and genomic clones of the retinoblastoma (RB-1) gene. 2063924 1991