EDAR, ectodysplasin A receptor, 10913

N. diseases: 69; N. variants: 36
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406702
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 		0.590 GeneticVariation disease BEFREE A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families. 31310406 2019
CUI: C0406702
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 		0.590 GeneticVariation disease BEFREE A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia. 24764207 2014
CUI: C0406702
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 		0.590 GeneticVariation disease BEFREE To study the molecular genetic cause of autosomal recessive hypohidrotic ectodermal dysplasia in three consanguineous Pakistani families (A, B and C), genotyping of 13 individuals was carried out by using polymorphic microsatellite markers that are closely linked to the EDAR gene on chromosome 2q11-q13 and the EDARADD gene on chromosome 1q42.2-q43. 21332691 2011
CUI: C0406702
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 		0.590 GeneticVariation disease BEFREE Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia. 21771270 2011
CUI: C0406702
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 		0.590 GeneticVariation disease BEFREE A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family. 20199431 2010
CUI: C0406702
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 		0.590 GeneticVariation disease BEFREE A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia. 20033817 2010
CUI: C0406702
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 		0.590 GeneticVariation disease BEFREE Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia. 19551394 2009
CUI: C0406702
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 		0.590 GeneticVariation disease BEFREE Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene. 18816645 2008
CUI: C0406702
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 		0.590 GeneticVariation disease BEFREE Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. 16029325 2005
CUI: C0406702
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 		0.590 Biomarker disease CTD_human
CUI: C0406702
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 		0.590 GermlineCausalMutation disease ORPHANET