Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia
0.110 GeneticVariation disease BEFREE Loss-of-function mutations in the Ca<sup>2+</sup> release-activated Ca<sup>2+</sup> channel genes ORAI1 and STIM1 abolish store-operated Ca<sup>2+</sup> entry (SOCE) and result in ectodermal dysplasia with amelogenesis imperfecta. 28732182 2017
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia
0.110 Biomarker disease HPO