Disease: Hypogonadism, Isolated Hypogonadotropic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		0.560 GeneticVariation disease BEFREE Polish founder mutation Arg139His in GnRHR was found in two nIHH patients originating from Western region of Russia. 27544332 2016
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		0.560 Biomarker disease BEFREE To analyze the GNRHR in patients with normosmic isolated hypogonadotropic hypogonadism (IHH) and constitutional delay of growth and puberty (CDGP). 25016926 2014
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		0.560 GeneticVariation disease BEFREE Novel mutation in the gonadotropin-releasing hormone receptor (GNRHR) gene in a patient with normosmic isolated hypogonadotropic hypogonadism. 23295295 2012
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		0.560 GeneticVariation disease BEFREE We identified two new missense mutations in the GnRHR gene in two siblings with HH. 16868131 2006
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		0.560 GeneticVariation disease BEFREE The GnRH receptor plays a central role in regulating gonadotropin synthesis and release, and several mutations in the GNRHR gene have been reported in patients with idiopathic or familial forms of isolated hypogonadotropic hypogonadism (IHH). 16968799 2006
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		0.560 Biomarker disease CTD_human A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation. 15625238 2005
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		0.560 Biomarker disease MGD A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation. 15625238 2005
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		0.560 GeneticVariation disease BEFREE A novel missense mutation, Arg(139)His, located in the conserved DRS motif at the junction of the third transmembrane and the second intracellular loop of the GnRH receptor was identified in the homozygous state in one female with complete HH. 11397871 2001