Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism
0.110 GeneticVariation disease BEFREE Thus, the present patients are the second and third cases of MTP deficiency associated with missense HADHB mutation and infantile onset hypoparathyroidism. 24664533 2014
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism
0.110 Biomarker disease HPO