EDA, ectodysplasin A, 1896

N. diseases: 150; N. variants: 83
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis
0.110 GeneticVariation disease BEFREE <b>Background</b> X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia, is caused by mutations in the gene <i>EDA.</i> While only affected men develop the full-blown clinical picture, females who are heterozygous for an <i>EDA</i> mutation often also show symptoms such as hypodontia, hypotrichosis and hypohidrosis. 28553001 2017
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis
0.110 Biomarker disease HPO