CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Disease: Hepatoblastoma ×
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: C0206624
Disease:
Hepatoblastoma 		G 0.700 CausalMutation CLINVAR
dbSNP: rs28931588
rs28931588
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206624
Disease:
Hepatoblastoma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs28931589
rs28931589
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206624
Disease:
Hepatoblastoma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206624
Disease:
Hepatoblastoma 		0.010 GeneticVariation BEFREE Co-expression of S33Y/S45Y-β-catenin and S127A-YAP1 led to activation of Yap and Wnt signaling and development of HB, with 100% mortality by 13 to 14 weeks. 30794807 2019
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206624
Disease:
Hepatoblastoma 		0.010 GeneticVariation BEFREE Finally, using a previously reported 16-gene signature, it was shown that YAP1-ΔN90-β-catenin HB tumors exhibited genetic similarities with more proliferative, less differentiated, GS-negative HB patient tumors, whereas YAP1-S33Y/S45Y-β-catenin HB exhibited heterogeneity and clustered with both well-differentiated GS-positive and proliferative GS-negative patient tumors. 30794807 2019