GNRH1, gonadotropin releasing hormone 1, 2796

N. diseases: 179; N. variants: 2
Disease: Klinefelter Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.040 Biomarker disease BEFREE Defective migration of the GnRH-1 neurons to the brain, lack of GnRH-1 secretion or signaling cause hypogonadotropic hypogonadism (HH), a pathology characterized by delayed or absence of puberty. 30881290 2019
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.040 Biomarker disease BEFREE The association of olfactory defects with HH in KS suggested a potential direct relationship between defective olfactory axonal routing, lack of olfactory bulbs (OBs) and aberrant GnRH-1 ns migration. 28970231 2017
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.040 GeneticVariation disease BEFREE Hypogonadotropic hypogonadism and GNRH1 mutations in mice and humans. 20389089 2010
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.040 GeneticVariation disease BEFREE Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. 19535795 2009