GNRH1, gonadotropin releasing hormone 1, 2796

N. diseases: 179; N. variants: 2
Disease: Eunuchoidism, familial hypogonadotropic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 GeneticVariation disease UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 Biomarker disease GENOMICS_ENGLAND Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations. 22724017 2012
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 Biomarker disease MGD Sertoli cell androgen receptor DNA binding domain is essential for the completion of spermatogenesis. 19574395 2009
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 GeneticVariation disease UNIPROT Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. 19535795 2009
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 Biomarker disease MGD Gonadotrophin-releasing hormone deficiency in a mutant mouse with hypogonadism. 198666 1977
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 Biomarker disease CTD_human
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 CausalMutation disease CLINVAR
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 Biomarker disease GENOMICS_ENGLAND