AXIN2, axin 2, 8313

N. diseases: 169; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Oligodontia-Colorectal Cancer Syndrome
0.710 Biomarker disease CLINGEN Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. 27696107 2017
Oligodontia-Colorectal Cancer Syndrome
0.710 CausalMutation disease CLINVAR Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis. 27090353 2016
Oligodontia-Colorectal Cancer Syndrome
0.710 Biomarker disease CLINGEN Expression and localization of axin 2 in colorectal carcinoma and its clinical implication. 23702820 2013
Oligodontia-Colorectal Cancer Syndrome
0.710 Biomarker disease CLINGEN Canonical Wnt suppressor, Axin2, promotes colon carcinoma oncogenic activity. 22745173 2012
Oligodontia-Colorectal Cancer Syndrome
0.710 CausalMutation disease CLINVAR Mutations in WNT10A are present in more than half of isolated hypodontia cases. 22581971 2012
Oligodontia-Colorectal Cancer Syndrome
0.710 GermlineCausalMutation disease ORPHANET AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. 21416598 2011
Oligodontia-Colorectal Cancer Syndrome
0.710 GeneticVariation disease CLINVAR AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. 21416598 2011
Oligodontia-Colorectal Cancer Syndrome
0.710 Biomarker disease CLINGEN AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. 21416598 2011
Oligodontia-Colorectal Cancer Syndrome
0.710 Biomarker disease CLINGEN Epigenetic silencing of AXIN2 in colorectal carcinoma with microsatellite instability. 16247484 2006
Oligodontia-Colorectal Cancer Syndrome
0.710 GeneticVariation disease BEFREE Recently, germline mutations in the Wnt pathway component gene AXIN2 have been associated with tooth agenesis-colorectal cancer syndrome. 16941501 2006
Oligodontia-Colorectal Cancer Syndrome
0.710 Biomarker disease CLINGEN Aberrant Wnt/beta-catenin signaling can induce chromosomal instability in colon cancer. 16815967 2006
Oligodontia-Colorectal Cancer Syndrome
0.710 Biomarker disease CLINGEN Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. 15042511 2004
Oligodontia-Colorectal Cancer Syndrome
0.710 GeneticVariation disease CLINVAR Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. 15042511 2004
Oligodontia-Colorectal Cancer Syndrome
0.710 GermlineCausalMutation disease ORPHANET Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. 15042511 2004
Oligodontia-Colorectal Cancer Syndrome
0.710 CausalMutation disease CLINVAR Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. 15042511 2004
Oligodontia-Colorectal Cancer Syndrome
0.710 Biomarker disease CTD_human
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 AlteredExpression disease BEFREE The aim of this study was to investigate β-catenin and AXIN2 expression in colorectal cancer (CRC) and relate these findings with patients' clinicopathological features and prognosis. 28534366 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 AlteredExpression disease BEFREE Finally, we determined that miR-30-5p attenuates the expression of Wnt/β-catenin signaling target genes (Axin2 and MYC), Wnt luciferase activity, and β-catenin protein levels in CRC stem cells. 30338942 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE Together, our study identifies a novel function of miR-103/107 in promoting colorectal cancer stemness by targeting Axin2 and elucidates the clinical relevance and prognostic value of this axis in colorectal cancer. 31273221 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE This study aims to determine the contribution of polymorphisms in the genes of the β-catenin destruction complex to develop CRC, specifically adenomatous polyposis coli (APC) (rs11954856 G>T and rs459552 A>T), axis inhibition protein 1 (AXIN1) (rs9921222 C>T and rs1805105 C>T), AXIN2 (rs7224837 A>G), and dishevelled 2 (DVL2) (2074222 G>A and rs222836 C>T). 31723073 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE We studied thirteen single nucleotide polymorphisms (SNPs) located in SFRP3 (rs7775), CTNNB1 (β-catenin) [rs4135385, rs13072632], APC (rs454886, rs459552), LRP6 (rs2075241, rs2284396), DKK4 (rs3763511), DKK3 (rs6485350), TCF4 (rs12255372) and AXIN2 (rs3923086, rs3923087, rs4791171) in patients with colorectal cancer (n = 122) and controls (n = 110). 31485167 2019
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 GeneticVariation disease BEFREE Study of rs12532, rs8670 Polymorphism of Msh Homeobox 1 (MSX1), rs61754301, rs4904155 Polymorphism of Paired Box Gene 9 (PAX9), and rs2240308 Polymorphism of Axis Inhibitor Protein 2 (AXIN2) Genes in Nonsyndromic Hypodontia. 31781599 2019
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 GeneticVariation disease BEFREE In this case report we describe a family with c.1972delA, p.Ser658Alafs*31 nonsense variant in AXIN2 where the three confirmed carriers presented with both oligodontia and colorectal adenomatous polyposis; mean number of teeth missing in carriers was 16.5 (range 11-22) and mean number of polyps in carriers was 49 (range 5->100, polyps were predominantly adenomatous). 30671715 2019
CUI: C4082304
Disease: Oligodontia
Oligodontia
0.500 GeneticVariation disease BEFREE In this case report we describe a family with c.1972delA, p.Ser658Alafs*31 nonsense variant in AXIN2 where the three confirmed carriers presented with both oligodontia and colorectal adenomatous polyposis; mean number of teeth missing in carriers was 16.5 (range 11-22) and mean number of polyps in carriers was 49 (range 5->100, polyps were predominantly adenomatous). 30671715 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE Therefore, Axin2 may serve as either a promoter or suppressor of tumors, and the effects of its inhibition on the cell proliferation and metastasis of CRC require further elucidation. 29534875 2018