| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | GeneticVariation | disease | 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 | ||||
|
0.330 | PosttranslationalModification | disease | 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 | ||||
|
0.330 | Biomarker | disease | 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 | ||||
|
0.330 | Biomarker | disease | CTD_human | |||||||
|
0.010 | GeneticVariation | disease | BEFREE | Allelic imbalance at 13q31 is associated with reduced GPC6 in Chinese with sporadic retinoblastoma. | 19726429 | 2010 | ||||
|
0.010 | AlteredExpression | disease | BEFREE | Mutational analysis of RB2/p130 in primary tumors showed a tight correlation between Exon 1 mutations and pRb2/p130 expression level in sporadic retinoblastoma. | 16007224 | 2005 | ||||
|
0.010 | AlteredExpression | disease | BEFREE | Mutational analysis of RB2/p130 in primary tumors showed a tight correlation between Exon 1 mutations and pRb2/p130 expression level in sporadic retinoblastoma. | 16007224 | 2005 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3). | 6500578 | 1984 | ||||
|
0.010 | Biomarker | disease | BEFREE | X-ray sensitivity of diploid fibroblasts from patients with hereditary or sporadic retinoblastoma. | 279012 | 1978 | ||||
|
0.010 | AlteredExpression | disease | BEFREE | Plasma carcinoembryonic antigen (CEA) levels were studied in all available members of 17 families in which a presumed sporadic retinoblastoma had occurred. | 1260660 | 1976 |