Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		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
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		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
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		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
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		0.560 GeneticVariation disease BEFREE We identified two new missense mutations in the GnRHR gene in two siblings with HH. 16868131 2006
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		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
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		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
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		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
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		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
Entrez Id: 6870
Gene Symbol: TACR3
TACR3 		0.320 Biomarker disease BEFREE Mutations in FGFR1, GNRHR, PROK2, PROKR2, TAC3, or TACR3 underlie isolated hypogonadotropic hypogonadism (IHH) with clinically variable phenotypes, and, by causing incomplete intrauterine activation of the hypothalamic-pituitary-gonadal axis, may lead to cryptorchidism. 21664240 2011
Entrez Id: 6870
Gene Symbol: TACR3
TACR3 		0.320 GeneticVariation disease BEFREE Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother. 20395662 2010
Entrez Id: 6870
Gene Symbol: TACR3
TACR3 		0.320 Biomarker disease CTD_human TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. 19079066 2009
Entrez Id: 2796
Gene Symbol: GNRH1
GNRH1 		0.310 GeneticVariation disease BEFREE The discovery in 1977 of a hypogonadal mouse lacking GnRH (hpg mice) and, in 1986, that the gnrh1 gene was deleted in this mouse, suggested that GNRH1 mutations might also cause human congenital idiopathic (or isolated) hypogonadotropic hypogonadism.This was finally demonstrated in 2009. 20389089 2010
Entrez Id: 6866
Gene Symbol: TAC3
TAC3 		0.310 Biomarker disease BEFREE TAC3 and TACR3 have recently been shown to be causative genes for an autosomal recessive form of isolated hypogonadotropic hypogonadism (IHH). 20395662 2010
Entrez Id: 2796
Gene Symbol: GNRH1
GNRH1 		0.310 Therapeutic disease CTD_human [Testosterone and infertility]. 20063086 2010
Entrez Id: 6866
Gene Symbol: TAC3
TAC3 		0.310 Biomarker disease CTD_human TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. 19079066 2009
Entrez Id: 2488
Gene Symbol: FSHB
FSHB 		0.300 Therapeutic disease CTD_human Follicle-stimulating hormone synthesis and fertility depend on SMAD4 and FOXL2. 24739304 2014
Entrez Id: 2488
Gene Symbol: FSHB
FSHB 		0.300 Biomarker disease CTD_human Follicle-stimulating hormone synthesis and fertility depend on SMAD4 and FOXL2. 24739304 2014
Entrez Id: 5424
Gene Symbol: POLD1
POLD1 		0.300 Biomarker disease CTD_human An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. 23770608 2013
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		0.300 Biomarker disease CTD_human Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. 20140240 2010
Entrez Id: 3972
Gene Symbol: LHB
LHB 		0.300 Biomarker disease CTD_human Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism. 18449926 2008
Entrez Id: 1586
Gene Symbol: CYP17A1
CYP17A1 		0.300 Biomarker disease CTD_human Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases. 18645707 2008
Entrez Id: 2488
Gene Symbol: FSHB
FSHB 		0.300 Therapeutic disease CTD_human Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism. 18449926 2008
Entrez Id: 2488
Gene Symbol: FSHB
FSHB 		0.300 Biomarker disease CTD_human Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism. 18449926 2008
Entrez Id: 3972
Gene Symbol: LHB
LHB 		0.300 Therapeutic disease CTD_human Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism. 18449926 2008
Entrez Id: 3953
Gene Symbol: LEPR
LEPR 		0.300 Biomarker disease CTD_human Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. 17229951 2007