Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 Biomarker disease BEFREE Our approach "re-discovered" genes previously implicated in IHH (FGFR1, TACR3, GNRHR). 30269813 2018
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 GeneticVariation disease BEFREE Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings. 29777911 2018
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism. 28611058 2017
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency. 29182666 2017
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency. 26207952 2015
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 Biomarker disease BEFREE In order to describe the clinical features, genetic etiology, and treatment outcome of KS males with CLP, we performed genetic screening for 15 known causal IHH genes (KAL1, FGFR1, NELF, FGF8, CHD7, WDR11, SEMA3A, KISS1R, KISS1, PROKR2, PROK2, TAC3, TACR3, GNRH1, and GNRHR) in four KS with CLP patients and six IHH patients without CLP. 26199944 2015
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 GeneticVariation disease UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR Genetics of congenital hypogonadotropic hypogonadism in Denmark. 24732674 2014
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 GeneticVariation disease BEFREE Six of the twelve subjects had an identified genetic cause of their IHH: KAL1 (n = 1), FGFR1 (n = 3), PROKR2 (n = 1), GNRHR (n = 1). 25226293 2014
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 GeneticVariation disease BEFREE Eleven IHH patients (10%) carried biallelic GNRHR mutations. 25016926 2014
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 GeneticVariation disease UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations. 22724017 2012
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 GeneticVariation disease BEFREE To identify and determine the frequency of mutations in the coding region of the gonadotropin-releasing hormone receptor (GnRHR) gene in forty Chinese patients with normosmic idiopathic hypogonadotropic hypogonadism (IHH) and establish genotype/phenotype correlations where possible. 23155690 2012
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B. 22405597 2012
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). 22745237 2012
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. 22766261 2012
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 GeneticVariation disease BEFREE Mutations in the human GNRHR gene have contributed greatly to the understanding of normosmic IHH, as well as the structure and function of the GnRHR. 20389088 2010
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 GeneticVariation disease BEFREE Mutations in GNRH1, KISS1R and GNRHR genes cause normosmic IHH, interfering with the normal synthesis, secretion or action of GnRH. 20188792 2010
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 GeneticVariation disease BEFREE Prior to 2003, the only gene linked to normosmic IHH was the gonadotropin-releasing hormone receptor gene. 19707180 2009
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 GeneticVariation disease BEFREE Mutations in three genes--KAL1, GNRHR and FGFR1--account for 15-20% of all causes of IHH/KS. 18463157 2008
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 GeneticVariation disease BEFREE To address this issue, we studied 2 families, one with Kallmann syndrome (IHH and anosmia) and another with normosmic IHH, in which a single-gene defect had been identified: a heterozygous FGF receptor 1 (FGFR1) mutation in pedigree 1 and a compound heterozygous gonadotropin-releasing hormone receptor (GNRHR) mutation in pedigree 2, both of which varied markedly in expressivity within and across families. 17235395 2007
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 Biomarker disease BEFREE Mutations in three genes (KAL1, FGFR1, and GNRHR) comprise most of the known genetic causes of IHH. 17543719 2007
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 GeneticVariation disease BEFREE The molecular basis of IHH/KS is reviewed, with particular emphasis on the three most common genes ( KAL1, FGFR1, and GNRHR) that possess mutations in these patients. 17594608 2007
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. 17235395 2007
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 GeneticVariation disease BEFREE During the last 10 years, 21 loss-of-function GNRHR mutations have been identified in patients with idiopathic hypogonadotropic hypogonadism. 17710733 2007