rs730882193, AXIN2

N. diseases: 6
Disease: Polyposis, Gastric ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polyposis, Gastric
CUI: C0236048
Disease: Polyposis, Gastric
0.010 GeneticVariation BEFREE We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers. 21416598 2011