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 Autosomal dominant hypocalcemia (ADH) can result from heterozygous missense activating mutations of the calcium-sensing receptor (CaSR) gene, a G-protein-coupled receptor playing key roles in mineral ion metabolism. 10770217 2000