Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 285025
Gene Symbol: CCDC141
CCDC141 		0.310 Biomarker disease CTD_human
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E 		0.300 Biomarker disease CTD_human
Entrez Id: 389549
Gene Symbol: FEZF1
FEZF1 		0.300 Biomarker disease CTD_human
Entrez Id: 23767
Gene Symbol: FLRT3
FLRT3 		0.300 Biomarker disease CTD_human
Entrez Id: 54756
Gene Symbol: IL17RD
IL17RD 		0.300 Biomarker disease CTD_human
Entrez Id: 1848
Gene Symbol: DUSP6
DUSP6 		0.300 Biomarker disease CTD_human
Entrez Id: 81848
Gene Symbol: SPRY4
SPRY4 		0.300 Biomarker disease CTD_human
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene. 12568864 2003
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 Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations. 22724017 2012
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect. 10999776 2000
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene. 12057744 2002
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. 9371856 1997
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		1.000 CausalMutation disease CLINVAR A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. 16968799 2006
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 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 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 Genetics of congenital hypogonadotropic hypogonadism in Denmark. 24732674 2014
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 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 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 CausalMutation disease CLINVAR Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. 22766261 2012