RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: Monosomy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026499
Disease: Monosomy
Monosomy 		0.020 GeneticVariation group BEFREE All 7 cases with successful RB1 fluorescence in situ hybridization testing showed RB1 gene deletions, which was variably associated with co-loss of the corresponding 13q12 signal (monosomy at the 13q region). 27825811 2017
CUI: C0026499
Disease: Monosomy
Monosomy 		0.020 AlteredExpression group BEFREE Three of the 4 patients with absent or reduced RB-1 protein expression had advanced MM (stage III: 2 cases; plasma cell leukemia: 1 case); all 4 patients were resistant to treatment (as compared to 7 of the 31 patients with normal RB-1 protein levels); only one of them was subsequently found to have monosomy 13 (as compared to 9 of the 28 other karyotyped patients). 8528059 1995