Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4302200
Disease: Congenital central hypothyroidism
Congenital central hypothyroidism
0.010 GeneticVariation disease BEFREE Isolated congenital central hypothyroidism (CeH) can result from mutations in TRHR, TSHB, and IGSF1, but its etiology often remains unexplained. 27603907 2016