Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism
0.110 GeneticVariation disease BEFREE We describe the first GCM2 mutation in exon 3 in patients with severe congenital hypoparathyroidism. 23155703 2012
CUI: C1455734
Disease: Congenital hypoparathyroidism
Congenital hypoparathyroidism
0.110 Biomarker disease HPO