Figure 4.

Prevalence of FHH1 and ADH1 in DiscovEHR Cohort

(A) FHH1 prevalence in the DiscovEHR cohort (black bar) compared to the age-adjusted prevalence of male PHPT (mPHPT, white bar) and female PHPT (fPHPT, gray bar) cases reported in a large US cohort.¹⁴

(B) ADH1 prevalence in the DiscovEHR cohort (black bar) compared with prevalence of non-surgical hypoparathyroidism (non-surg HypoPT, white bar) and all forms of hypoparathyroidism (Total HypoPT, gray bar), estimated for the entire insured adult US population.²³

(C) Manhattan plot of SKAT analysis used to detect disease associations defined by ICD9 codes for a binned group of all LoF plus mLoF variants. Labels indicate top associations with phenome-wide significance, which include all results above the dotted line, p < 0.05, corrected for multiple testing. Variants included in analysis and all significant results are in Table 4.