Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 Biomarker disease HPO
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 CausalMutation disease CGI
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GenomicAlterations disease CGI
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 Biomarker disease CTD_human
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 CausalMutation disease CLINVAR "Comment on ""Lowpenetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras"" by Park et al." 18682685 2008
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma is a malignant intra-ocular tumour of developing retina initiated by inactivation of both alleles of the retinoblastoma susceptibility (RB1) gene. 12569181 2003
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) tumors arise when both alleles of the RB1 gene are inactivated by two mutational events (M1 and M2). 1544317 1992
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is a malignant childhood tumor that results from loss or inactivation of both alleles of the RB1 gene. 16102585 2005
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (MIM +180 200) is a malignant neoplasm affecting embryonal retina, associated with mutations in the RB1 gene. 20447117 2010
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (RB), an intraocular tumor of childhood, is commonly associated with mutations in the RB1 gene. 23233783 2012
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 AlteredExpression disease BEFREE Retinoblastoma is a childhood cancer of the developing retina that initiates with biallelic inactivation of the RB1 gene. 23765217 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma is a childhood ocular tumor that develops from loss of functional retinoblastoma protein (pRb) as a result of genetic or epigenetic changes that affect both alleles of the RB1 gene. 23826078 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is the most common eye tumor in children; it originates from germline and/or somatic mutations that inactivate both alleles of the RB1 gene located on chromosome 13q14. 24412019 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 AlteredExpression disease BEFREE Retinoblastoma (Rb) is a childhood cancer of the retina, commonly initiated by biallelic inactivation of the RB1 gene. 24688104 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 AlteredExpression disease BEFREE Retinoblastoma is a rare pediatric cancer of the developing retina that initiates with biallelic inactivation of the RB1 gene. 25636476 2015
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (Rb) is a childhood tumor (~1 in 20,000 live births) developing in the retina due to mutations in the RB1 gene. 25754945 2015
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (Rb) is a progressive cancer which mainly occurs in children, and which is caused by different genetic or epigenetic alterations that lead to inactivation of both alleles of the RB1 gene. 26063518 2015
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is the most common malignant childhood tumor of the eye and results from inactivation of both alleles of the RB1 gene. 26530098 2015
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. 28575107 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is a pediatric intraocular tumor caused by mutations in retinoblastoma (RB1) gene. 29579639 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is a pediatric ocular cancer which is caused due to the aberrations in the RB1 gene. 29742327 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 AlteredExpression disease BEFREE Retinoblastoma (Rb) results from biallelic inactivation of the RB1 gene. 30031154 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 PosttranslationalModification disease BEFREE Retinoblastoma (RB), which represents the most common childhood eye cancer, is caused by biallelic inactivation of RB1 gene. 30427563 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is a childhood eye tumor, caused by the RB1 gene mutation. 31781967 2020