Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271846
Disease: Familial hyperparathyroidism
Familial hyperparathyroidism
0.010 GeneticVariation disease BEFREE CaSR and AP2S1 sequencing is worthwhile in patients with familial hyperparathyroidism and phenotype suggesting FHH as it can diagnose up to 50% of cases.GNA11 mutations seem much rarer. 28176280 2017