Disease: Gonadotropin deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency 		0.030 GeneticVariation disease BEFREE GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency. 29182666 2017
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency 		0.030 GeneticVariation disease BEFREE In this article we summarize phenotypic characteristics of these patients and focus on specific functional alterations of the human GnRH-R. In-vitro studies using recombinant receptor constructs demonstrate that GnRH-R missense mutations result in impaired ligand binding and reduced signal transduction, causing gonadotrophin deficiency. 14714589 2004
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency 		0.030 GeneticVariation disease BEFREE Mutations of the GnRH receptor have been recognized as a cause of familial gonadotropin deficiency. 12679486 2003