Disease: Retinoblastoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
0.700 CausalMutation CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237 2016
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
0.700 CausalMutation CLINVAR Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. 27582626 2016
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
0.700 CausalMutation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945 2015
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
0.700 CausalMutation CLINVAR Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations. 24791139 2014
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
0.700 CausalMutation CLINVAR RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients. 24688104 2014
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
0.700 CausalMutation CLINVAR Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis. 22963398 2013
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
0.700 CausalMutation CLINVAR Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. 2594029 1989