EDAR, ectodysplasin A receptor, 10913

N. diseases: 69; N. variants: 36
Disease: Oligodontia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.020 GeneticVariation disease BEFREE The affected female showed homogeneous hypotrichosis and oligodontia as previously observed in bovine EDAR homozygous and EDA hemizygous mutants. 31533624 2019
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.020 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