RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: Rhabdomyosarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.030 GeneticVariation disease BEFREE Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype. 18386058 2008
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.030 Biomarker disease BEFREE In addition, immunoprecipitation with antibody to RB1 protein indicated the presence of normal RB1 protein in all rhabdomyosarcomas. 8418305 1993
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.030 GeneticVariation disease BEFREE Using a probe that detects a polymorphic locus within the RB1 gene we found loss of only one allele (heterozygous deletion) in 33% of soft tissue sarcomas examined, including two leiomyosarcomas, a malignant peripheral nerve sheath tumour, a rhabdomyosarcoma and a chondrosarcoma. 2765366 1989