CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 GeneticVariation disease BEFREE Our results highlight the role of DICER1 mutations in liver carcinogenesis in a specific subtype of familial and sporadic hepatocellular carcinomas associated with β-catenin activation. 28012864 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 GeneticVariation disease BEFREE A Leu104Val mutation of protease serine 1 (PRSS1) was observed in the familial patients and 2 healthy male family members; no β-catenin or adenomatous polyposis coli mutations were detected in the familial cases. 22722260 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 GeneticVariation disease BEFREE Somatic mutations in familial adenomatous polyps. Nuclear translocation of beta-catenin requires more than biallelic APC inactivation. 14502807 2003