Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
0.120 GeneticVariation disease BEFREE Here we review the mutations in STIM1 and ORAI1 causing AI-like phenotype, and evaluate the enamel defects in CRAC channel deficient mice. 30114531 2018
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
0.120 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: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
0.120 Biomarker disease HPO