RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma 		0.600 GermlineCausalMutation disease ORPHANET Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies. 23498719 2013
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma 		0.600 GermlineCausalMutation disease ORPHANET Hereditary retinoblastoma constitutes a cancer predisposition syndrome: a subject constitutionally carrying an RB1 gene mutation has a greater than 90% risk of developing retinoblastoma but is also at increased risk of developing other types of cancers.Diagnosis is made by fundoscopy. 16934146 2006
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma 		0.600 GermlineCausalMutation disease ORPHANET Gender-dependent histone deacetylases injury may contribute to differences in liver recovery rates of male and female mice. 23498780 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 GenomicAlterations disease CGI
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.720 GenomicAlterations disease CGI
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.610 GenomicAlterations disease CGI
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GenomicAlterations disease CGI
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.600 GenomicAlterations disease CGI
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.540 GenomicAlterations disease CGI
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.350 GenomicAlterations group CGI
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.310 GenomicAlterations disease CGI
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder 		0.300 GenomicAlterations disease CGI
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder 		0.300 GenomicAlterations disease CGI
CUI: C0496930
Disease: Neoplasm of uncertain or unknown behavior of bladder
Neoplasm of uncertain or unknown behavior of bladder 		0.300 GenomicAlterations disease CGI
CUI: C0496956
Disease: Neoplasm of uncertain or unknown behavior of breast
Neoplasm of uncertain or unknown behavior of breast 		0.300 GenomicAlterations disease CGI
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		0.300 GenomicAlterations disease CGI
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families. 10486322 1999
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
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 CausalMutation disease CLINVAR Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression. 18181215 2008
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis. 22963398 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. 8651278 1996
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 19339519 2009
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma. 22180099 2012
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.800 CausalMutation disease CLINVAR Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma. 24336570 2014