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
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: C0020608
Disease: Hypodontia
Hypodontia
0.500 GeneticVariation disease BEFREE We analysed this novel AXIN2 mutant, together with two reported AXIN2 mutants [c.1966C>T (p.Arg656Stop) and c.1994delG (p.Leu688Stop)] that cause colorectal cancer with and without oligodontia, to study the effect of the mutant p.His660Tyr on the Wnt/β-catenin signaling pathway and to compare the molecular pathogenesis of different AXIN2 mutants in tooth agenesis and carcinogenesis. 27090353 2016
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 GeneticVariation disease BEFREE The findings suggest that the c.956+16A>G, c.1365A>G and c.1200+71A>G mutations of AXIN2 may be responsible for the oligodontia phenotype in this family, but these findings require further study. 25377791 2015
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 GeneticVariation disease BEFREE Heterozygous, germline nonsense mutations in AXIN2 have been reported in two families with oligodontia and colorectal cancer (CRC) predisposition, including an AXIN2 1989G>A mutation. 26025668 2015
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 GeneticVariation disease BEFREE Our study supports the relationship between AXIN2 mutation and non-syndromic oligodontia and extends the mutation spectrum of the AXIN2 gene. 26406231 2015
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 GeneticVariation disease BEFREE Our findings indicate that AXIN2 can be regarded as a candidate gene for mutation detection in individuals with non-syndromic oligodontia in the Chinese population. 24581859 2014
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 Biomarker disease BEFREE To date, more than 300 genes have been found to be involved in tooth development, but only a few of these genes, such as MSX1, PAX9 and AXIN2, are related to the condition of non-syndromic oligodontia. 23731659 2013
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 GeneticVariation disease BEFREE Previous authors have described an unrelated family with autosomal dominant oligodontia and a variable colorectal phenotype segregating with a nonsense mutation of AXIN2, as well as a frameshift AXIN2 mutation in an unrelated individual with oligodontia. 21416598 2011
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 GeneticVariation disease BEFREE Sequence analysis of PAX9, MSX1 and AXIN2 genes in a Chinese oligodontia family. 21530942 2011
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 GeneticVariation disease BEFREE Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes. 21626677 2011
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 Biomarker disease BEFREE At present, the list of genes involved in human non-syndromic hypodontia includes not only those encoding a signaling molecule (TGFA) and transcription factors (MSX1 and PAX9) that play critical roles during early craniofacial development, but also genes coding for a protein involved in canonical Wnt signaling (AXIN2), and a transmembrane receptor of fibroblast growth factors (FGFR1). 18771513 2009
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 Biomarker disease BEFREE Of particular interest is AXIN2, which was linked to two families segregating oligodontia and colorectal cancer. 18790474 2009
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 Biomarker disease BEFREE Msx1, Pax9, and Axin2 are involved in non-syndromic hypodontia, while genes such as Shh, Pitx2, Irf6, and p63 are considered to participate in syndromic genetic disorders, which include tooth agenesis. 18573979 2008
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 Biomarker disease BEFREE Genes affecting early tooth development (PAX9, MSX1, and AXIN2) are associated with familial tooth agenesis or oligodontia. 17552940 2007
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 GeneticVariation disease BEFREE Considering the discrepancy between the high incidence rate of agenesis and the relatively small number of reported causative mutations in PAX9, MSX1 and AXIN2 genes, the genetic contribution to oligodontia probably is much more heterogeneous than expected so far. 16918677 2006
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 GeneticVariation disease BEFREE Our findings suggest that AXIN2 polymorphic variants may be associated with both hypodontia and oligodontia. 16432638 2006
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 GeneticVariation disease BEFREE We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2. 15042511 2004
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 GermlineCausalMutation disease ORPHANET
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.500 Biomarker disease HPO