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 GeneticVariation disease UNIPROT A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene. 11318785 2001
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 Biomarker disease GENOMICS_ENGLAND Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. 9425890 1998
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 GeneticVariation disease BEFREE All patients with complete idiopathic hypogonadotropic hypogonadism had the same GnRHR mutations, but clinical presentations and endocrinologic responses were heterogeneous. 11384641 2001
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 GeneticVariation disease BEFREE We believe this to be the largest GNRHR gene mutation analysis performed to date in a population of IHH patients. 16213849 2005
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR Receptor-misrouting: an unexpectedly prevalent and rescuable etiology in gonadotropin-releasing hormone receptor-mediated hypogonadotropic hypogonadism. 12364481 2002
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 GeneticVariation disease BEFREE As GnRH-R mutations explain several but not all cases of IHH, the search for new candidate genes continued in informative families. 15722618 2005
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 GeneticVariation disease UNIPROT Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor. 10523035 1999
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 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 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 GeneticVariation disease BEFREE To identify additional gene defects leading to IHH, a large consanguineous family with five affected siblings and with a normal gonadotropin-releasing hormone receptor coding sequence was studied. 12944565 2003
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 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 GeneticVariation disease UNIPROT Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. 11397871 2001
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR This case thus expands the emerging clinical spectrum of GnRH-R mutations, provides the first genetic basis for the fertile eunuch variant of IHH and documents the occurrence of reversible IHH in a patient with a GnRH-R mutation. 11397842 2001
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 CausalMutation disease CLINVAR Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. 11397871 2001
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 In vitro coexpression and pharmacological rescue of mutant gonadotropin-releasing hormone receptors causing hypogonadotropic hypogonadism in humans expressing compound heterozygous alleles. 15728205 2005
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 GeneticVariation disease BEFREE This new case emphasizes the implication of the GnRH receptor mutations in the etiology of idiopathic hypogonadotropic hypogonadism. 10999776 2000
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 Denaturing gradient gel electrophoresis failed to identify single-base differences unique to patients with idiopathic hypogonadotropic hypogonadism, dramatically reducing the likelihood that point mutations of the GnRH receptor gene are present in idiopathic hypogonadotropic hypogonadism. 9418701 1997