EDA, ectodysplasin A, 1896

N. diseases: 150; N. variants: 83
Disease: Anhidrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		0.110 GeneticVariation disease BEFREE Among 26 different EDA genotypes, specific mutations were shown to be consistently associated with anhidrosis, implying that systematic mapping of EDA mutations together with the analysis of objective clinical data may help to distinguish functionally crucial mutations from those allowing residual activity of the gene product. 21357618 2011
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		0.110 Biomarker disease HPO