Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4048195
Disease: Autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia
0.010 GeneticVariation disease BEFREE Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3). 24708097 2014