Disease: Hypoparathyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.010 GeneticVariation disease BEFREE None of the 60 patients presented with nucleotidic changes or copy number variation in the AP2S1 gene, thereby excluding AP2S1 defects as a frequent cause of isolated hypoparathyroidism. 24423332 2014