rs121913403, CTNNB1

N. diseases: 23
Disease: Pilomatrixoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
0.810 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
0.810 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
0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
0.810 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
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
0.810 GeneticVariation UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456 2002
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
0.810 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
0.810 GeneticVariation UNIPROT A common human skin tumour is caused by activating mutations in beta-catenin. 10192393 1999
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
0.810 CausalMutation CLINVAR
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
0.810 CausalMutation CLINVAR