EDARADD, EDAR associated death domain, 128178

N. diseases: 66; N. variants: 9
Disease: Oligodontia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.420 Biomarker disease BEFREE WNT10A, EDA, EDAR and EDARADD were sequenced in 88 patients with isolated oligodontia and 26 patients with syndromic tooth agenesis. 24312213 2013
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.420 GeneticVariation disease BEFREE EDARADD mutations have previously been reported in a few families segregating hypohidrotic ectodermal dysplasia and this is, to our knowledge, the first report of an EDARADD mutation associated with isolated oligodontia. 21626677 2011
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.420 GermlineCausalMutation disease ORPHANET
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.420 Biomarker disease HPO