EDAR, ectodysplasin A receptor, 10913

N. diseases: 69; N. variants: 36
Disease: Ectodermal Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.170 GeneticVariation disease BEFREE The interaction of ectodysplasin-A (EDA) with its receptor, EDAR, plays a critical role in cusp formation by these enamel knots, and mutations of these genes is a cause of ectodermal dysplasia. 30089653 2018
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.170 Biomarker disease BEFREE Hair shaft structures in EDAR induced ectodermal dysplasia. 26336973 2015
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.170 GeneticVariation disease BEFREE Our study allows a more precise definition of the phenotypic spectrum associated with EDAR and WNT10A mutations and underlines the importance of the implication of WNT10A among patients with ED. 23401279 2013
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.170 GeneticVariation disease LHGDN Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 18231121 2008
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.170 GeneticVariation disease LHGDN Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes. 17970812 2008
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.170 GeneticVariation disease LHGDN A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia. 17501952 2007
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.170 CausalMutation disease CLINVAR Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. 16435307 2006
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.170 Biomarker disease BEFREE EDAR, the gene for the ectodysplasin A1 receptor, occurs on HSA2 but was excluded as the cause of canine ectodermal dysplasia. 15958791 2005
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.170 Biomarker disease HPO