CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Disease: Pilomatrixoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931588
rs28931588
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma 		0.820 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065 2009
dbSNP: rs28931588
rs28931588
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma 		0.820 GeneticVariation UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456 2002
dbSNP: rs28931588
rs28931588
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma 		0.820 GeneticVariation BEFREE A novel mutation, D32N, was found in one case of pilomatricoma. 11472567 2001
dbSNP: rs28931588
rs28931588
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma 		0.820 GeneticVariation UNIPROT beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. 11703283 2001
dbSNP: rs28931588
rs28931588
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma 		0.820 GeneticVariation UNIPROT A common human skin tumour is caused by activating mutations in beta-catenin. 10192393 1999
dbSNP: rs28931588
rs28931588
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma 		T 0.820 CausalMutation CLINVAR