Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.110 GeneticVariation phenotype BEFREE Our results indicate that STIM1-independent activation of CRAC channels induced by dominant mutations in ORAI1 cause altered Ca(2+) homeostasis, resulting in TAM with hypocalcemia. 25227914 2015
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.110 Biomarker phenotype HPO