MAPK3, mitogen-activated protein kinase 3, 5595

N. diseases: 647; N. variants: 7
Disease: Idiopathic hypogonadotropic hypogonadism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.010 GeneticVariation disease BEFREE Two IHH-associated mutations (L218P and R270H) disrupted Gαq-dependent signaling but maintained normal Gαs and ERK1/2 signaling. 30576231 2019