CTNNB1, catenin beta 1, 1499

N. diseases: 130; N. variants: 54
Disease: Craniopharyngioma ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		0.700 Biomarker disease CTD_human Targeted genotyping revealed BRAF p.Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of CTNNB1 in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors). 24413733 2014
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		0.700 SomaticCausalMutation disease ORPHANET Targeted genotyping revealed BRAF p.Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of CTNNB1 in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors). 24413733 2014