AXIN2, axin 2, 8313

N. diseases: 169; N. variants: 34
Disease: Tooth Loss ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		0.010 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