Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperparathyroidism, Primary
CUI: C0221002
Disease: Hyperparathyroidism, Primary
0.010 GeneticVariation BEFREE PHPT was present in one patient with mutation in exon 14 (Val804Met), whereas all other patients affected with mutations in exon 14 had hereditary MTC without PHPT and/or pheos. 16865647 2006