EDARADD, EDAR associated death domain, 128178

N. diseases: 66; N. variants: 9
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 		0.510 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 		0.510 GermlineCausalMutation disease ORPHANET
CUI: C0406702
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 		0.510 Biomarker disease CTD_human