CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.430 Biomarker disease BEFREE Loss of beta-catenin expression has been associated with more aggressive clinical disease in cutaneous melanoma, but its status in conjunctival melanocytic lesions is not known, therefore we incorporated beta-catenin immunohistochemical staining in our study. 28161440 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.430 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.430 Biomarker disease BEFREE Our results suggest that posttranslational events, rather than CTNNB1 mutations, are responsible for the altered distribution of beta-catenin in cutaneous melanoma. 11950921 2002
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.430 GeneticVariation disease BEFREE Cytoplasmic and nuclear accumulation of beta-catenin is rarely caused by CTNNB1 exon 3 mutations in cutaneous malignant melanoma. 11351304 2001
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.430 CausalMutation disease CGI