CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Disease: Fibromatosis, Aggressive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913412
rs121913412
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0079218
Disease:
Fibromatosis, Aggressive 		0.060 GeneticVariation BEFREE No statistically significant difference in relative expression levels of Wnt target genes AXIN2, DKK1 and CCND1 was identified between either CTNNB1 wild-type, S45F or T41A mutated DTF samples. 30528042 2019
dbSNP: rs121913412
rs121913412
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0079218
Disease:
Fibromatosis, Aggressive 		0.060 GeneticVariation BEFREE Our findings suggest that the response to sorafenib differs when comparing S45F-mutated DTs and T41A-mutated or wild-type DTs. 30980399 2019
dbSNP: rs121913412
rs121913412
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0079218
Disease:
Fibromatosis, Aggressive 		0.060 GeneticVariation BEFREE The majority of desmoid tumors are related to T41A and S45F mutations of the beta-catenin encoding gene (CTNNB1). 29330550 2018
dbSNP: rs121913412
rs121913412
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0079218
Disease:
Fibromatosis, Aggressive 		0.060 GeneticVariation BEFREE We demonstrated that mutated DFs (T41A or S45F) and WT are two distinct molecular subgroups with regard to β-catenin stability, α-catenin affinity, and gene expression profiling. 28627792 2017
dbSNP: rs121913412
rs121913412
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0079218
Disease:
Fibromatosis, Aggressive 		0.060 GeneticVariation BEFREE Only 1 NMC had no detectable CTNNB1 mutation; however, the patient's subsequent NMC-fibromatosis had a CTNNB1 p.T41A mutation. 27259010 2016
dbSNP: rs121913412
rs121913412
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0079218
Disease:
Fibromatosis, Aggressive 		0.060 GeneticVariation BEFREE The other 3 patients showed a CTNNB1 mutation in the original desmoid-type fibromatosis (2 with a T41A and 1 with an S45F mutation), which was absent in the sarcoma. 26414222 2015