CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519379
rs1057519379
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		AC 0.700 CausalMutation CLINVAR
dbSNP: rs1057519379
rs1057519379
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		AC 0.700 CausalMutation CLINVAR
dbSNP: rs1057519379
rs1057519379
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0339539
Disease:
Familial Exudative Vitreoretinopathy 		0.010 GeneticVariation BEFREE We describe heterozygous mutations (c.2142_2157dup [p.His720<sup>∗</sup>] and c.2128C>T [p.Arg710Cys]) in two dominant FEVR-affected families and a de novo mutation (c.1434_1435insC [p.Glu479Argfs<sup>∗</sup>18]) in a simplex case subject. 28575650 2017
dbSNP: rs1057519380
rs1057519380
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		CTAGCTATCGTTCTTTT 0.700 CausalMutation CLINVAR
dbSNP: rs1057519380
rs1057519380
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C4539767
Disease:
EXUDATIVE VITREORETINOPATHY 7 		CTAGCTATCGTTCTTTT 0.700 CausalMutation CLINVAR
dbSNP: rs1057519836
rs1057519836
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0027651
Disease:
Neoplasms 		C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs1057519836
rs1057519836
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0027651
Disease:
Neoplasms 		T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs1057519836
rs1057519836
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0038356
Disease:
Stomach Neoplasms 		G 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs1057519837
rs1057519837
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0027651
Disease:
Neoplasms 		0.710 GeneticVariation BEFREE Of interest, mutation analyses revealed the presence of an identical point mutation, c.98C>G, in exon 3 of β-catenin (CTNNB1) in both tumors. 21881488 2011
dbSNP: rs1057519837
rs1057519837
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0027651
Disease:
Neoplasms 		G 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs1057519837
rs1057519837
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma 		T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs1057519886
rs1057519886
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0009404
Disease:
Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519886
rs1057519886
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519886
rs1057519886
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519886
rs1057519886
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0281361
Disease:
Adenocarcinoma of pancreas 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519886
rs1057519886
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0151779
Disease:
Cutaneous Melanoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519886
rs1057519886
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025149
Disease:
Medulloblastoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519886
rs1057519886
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0281361
Disease:
Adenocarcinoma of pancreas 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519886
rs1057519886
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519886
rs1057519886
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519886
rs1057519886
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0279680
Disease:
Transitional cell carcinoma of bladder 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519886
rs1057519886
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0278701
Disease:
Gastric Adenocarcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519886
rs1057519886
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0007112
Disease:
Adenocarcinoma of prostate 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519886
rs1057519886
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519886
rs1057519886
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0151779
Disease:
Cutaneous Melanoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016