CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma
A 0.700 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma
A 0.700 CausalMutation CLINVAR Genetic and epigenetic alterations of the APC gene in malignant melanoma. 15133491 2004
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma
T 0.700 CausalMutation CLINVAR Genetic and epigenetic alterations of the APC gene in malignant melanoma. 15133491 2004
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma
A 0.700 CausalMutation CLINVAR Molecular genetic analysis of malignant melanomas for aberrations of the WNT signaling pathway genes CTNNB1, APC, ICAT and BTRC. 12124804 2002
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma
T 0.700 CausalMutation CLINVAR Molecular genetic analysis of malignant melanomas for aberrations of the WNT signaling pathway genes CTNNB1, APC, ICAT and BTRC. 12124804 2002
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma
T 0.700 CausalMutation CLINVAR Mutations in exon 3 of the beta-catenin gene are rare in melanoma cell lines. 11930117 2002
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma
A 0.700 CausalMutation CLINVAR Loss of membranous expression of beta-catenin is associated with tumor progression in cutaneous melanoma and rarely caused by exon 3 mutations. 11950921 2002
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma
T 0.700 CausalMutation CLINVAR Loss of membranous expression of beta-catenin is associated with tumor progression in cutaneous melanoma and rarely caused by exon 3 mutations. 11950921 2002
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma
A 0.700 CausalMutation CLINVAR Mutations in exon 3 of the beta-catenin gene are rare in melanoma cell lines. 11930117 2002
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma
A 0.700 CausalMutation CLINVAR Cytoplasmic and nuclear accumulation of beta-catenin is rarely caused by CTNNB1 exon 3 mutations in cutaneous malignant melanoma. 11351304 2001
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma
T 0.700 CausalMutation CLINVAR Cytoplasmic and nuclear accumulation of beta-catenin is rarely caused by CTNNB1 exon 3 mutations in cutaneous malignant melanoma. 11351304 2001
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma
A 0.700 CausalMutation CLINVAR Frequent nuclear/cytoplasmic localization of beta-catenin without exon 3 mutations in malignant melanoma. 10027390 1999
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma
T 0.700 CausalMutation CLINVAR Frequent nuclear/cytoplasmic localization of beta-catenin without exon 3 mutations in malignant melanoma. 10027390 1999
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma
A 0.700 CausalMutation CLINVAR Stabilization of beta-catenin by genetic defects in melanoma cell lines. 9065403 1997
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease:
melanoma
T 0.700 CausalMutation CLINVAR Stabilization of beta-catenin by genetic defects in melanoma cell lines. 9065403 1997