Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84260
Gene Symbol: TCHP
TCHP
0.010 GeneticVariation disease BEFREE The N-terminal domain of the retinoblastoma (Rb) tumor suppressor protein (RbN) harbors in-frame exon deletions in partially penetrant hereditary retinoblastomas and is known to impair cell growth and tumorigenesis. 26711265 2015
Entrez Id: 6794
Gene Symbol: STK11
STK11
0.010 GeneticVariation disease BEFREE Germline loss of function mutations in tumor suppressor genes RB1 and LKB1/STK11 are associated with the autosomal dominant cancer predisposing syndromes familial retinoblastoma and Peutz-Jeghers syndrome (PJS), respectively. 23463749 2013
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
0.010 Biomarker disease BEFREE Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma. 22180099 2012
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.010 GeneticVariation disease BEFREE In contrast, the relative amounts of hMSH2 or RB1 mRNAs carrying premature termination codons were significantly reduced compared with those of wild-type mRNAs in lymphocytes from carriers of hereditary, nonpolyposis, colorectal cancer and hereditary retinoblastoma. 15480874 2004
Entrez Id: 1081
Gene Symbol: CGA
CGA
0.010 GeneticVariation disease BEFREE Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. 7704558 1994
Entrez Id: 5973
Gene Symbol: RENBP
RENBP
0.010 Biomarker disease BEFREE We further analyzed this parental age factor by measuring the relative risk of age groups and comparing the incidence of sporadic hereditary retinoblastoma in the various parental age groups with the incidence of sporadic hereditary retinoblastoma in the total population. 2248323 1990
Entrez Id: 8102
Gene Symbol: XRS
XRS
0.010 Biomarker disease BEFREE X-ray sensitivity of fibroblasts from patients with hereditary retinoblastoma and their families. 3620303 1987