Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0751484
Disease: Sporadic Retinoblastoma
Sporadic Retinoblastoma 		0.330 GeneticVariation BEFREE Deep sequencing of the RB1 gene on lymphocyte DNA from 20 bilateral and 70 unilateral RB cases was performed, where Sanger sequencing excluded the presence of mutations. 24282159

2014
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0751484
Disease: Sporadic Retinoblastoma
Sporadic Retinoblastoma 		0.330 PosttranslationalModification BEFREE Whereas we reconfirmed hypermethylation of the RB1 gene in a sporadic retinoblastoma, no hypermethylation could be detected in the 25 osteosarcoma specimens, suggesting that hypermethylation of the RB1 promoter is not of major importance during osteosarcoma genesis. 14660307

2004
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0751484
Disease: Sporadic Retinoblastoma
Sporadic Retinoblastoma 		0.330 Biomarker BEFREE Our results indicate that the RB1 gene in sporadic retinoblastoma is commonly inactivated because of loss-of-function mutations and loss of heterozygosity but not by the epigenetic phenomenon of promoter hypermethylation. 12402348

2002
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0751484
Disease: Sporadic Retinoblastoma
Sporadic Retinoblastoma 		0.330 Biomarker CTD_human