Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0857439
Disease: Pituitary hormone deficiency
Pituitary hormone deficiency
0.300 Biomarker phenotype GENOMICS_ENGLAND Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis. 29097701 2017