RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913301
rs121913301
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945 2015
dbSNP: rs121913301
rs121913301
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis. 26396485 2015
dbSNP: rs121913301
rs121913301
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. 25928201 2015
dbSNP: rs121913301
rs121913301
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients. 24688104 2014
dbSNP: rs121913301
rs121913301
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Phenotypic variability of retinocytomas: preregression and postregression growth patterns. 22328814 2012
dbSNP: rs121913301
rs121913301
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. 15884040 2005
dbSNP: rs121913301
rs121913301
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Rapid identification of germline mutations in retinoblastoma by protein truncation testing. 14769601 2004
dbSNP: rs121913301
rs121913301
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 12541220 2003
dbSNP: rs121913301
rs121913301
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. 7795591 1995