rs28931589, CTNNB1

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
0.800 GeneticVariation UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456 2002
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
0.800 GeneticVariation UNIPROT beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. 11703283 2001
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
0.800 GeneticVariation UNIPROT A common human skin tumour is caused by activating mutations in beta-catenin. 10192393 1999
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
0.800 CausalMutation CLINVAR
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.710 GeneticVariation BEFREE Only three HCC cases (5.6%) were found mutated at residues (G34E, S45P, P44S, T41I) important for phosphorylation and ubiquitination of beta-catenin protein. 25536643 2015
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Craniopharyngioma
CUI: C0010276
Disease: Craniopharyngioma
0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Craniopharyngioma
CUI: C0010276
Disease: Craniopharyngioma
0.710 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065 2009
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016