Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism
0.020 GeneticVariation disease BEFREE It is unclear whether the mutant PHEX gene can induce hyperparathyroidism by abnormal regulation of peptidases. 15015068 2004
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism
0.020 Biomarker disease BEFREE In summary, we have shown that hyperparathyroidism can be a primary manifestation of XLH and that PHEX is abundantly expressed in the parathyroid gland. 10460513 1999