EDAR, ectodysplasin A receptor, 10913

N. diseases: 69; N. variants: 36
Disease: Developmental absence of tooth ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.120 GeneticVariation disease BEFREE Individuals with a c.1072C > T mutation in the EDAR-gene displayed a typical pattern of congenitally missing teeth in the frontal area with functional consequences. 24884697 2014
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.120 Biomarker disease BEFREE Significant differences in the number of some primary missing teeth (incisor and canine) related to EDA-EDAR genes defects were detected for the first time between XLHED and autosomal recessive HED, suggesting differential local effects of EDA-EDAR genes during odontogenesis. 20236127 2010
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.120 Biomarker disease HPO