Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		0.390 GeneticVariation disease BEFREE 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 		0.390 GeneticVariation disease BEFREE Molecular defects of the GnRH-receptor gene in Chinese patients with idiopathic hypogonadotropic hypogonadism and the severity of hypogonadism. 23155690 2012
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		0.390 GeneticVariation disease LHGDN The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 18463157 2008
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		0.390 GeneticVariation disease LHGDN The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism. 16213849 2005
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		0.390 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 		0.390 GeneticVariation disease LHGDN Human loss-of-function gonadotropin-releasing hormone receptor mutants retain wild-type receptors in the endoplasmic reticulum: molecular basis of the dominant-negative effect. 15105440 2004
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		0.390 GeneticVariation disease BEFREE New mutations in SF1, DAX1 and GnRHR genes were identified in three Brazilian patients with hypogonadism. 14689055 2004
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		0.390 GeneticVariation disease BEFREE Mutations of the GnRH receptor have been recognized as a cause of familial gonadotropin deficiency. 12679486 2003
Entrez Id: 2798
Gene Symbol: GNRHR
GNRHR 		0.390 GeneticVariation disease LHGDN 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 		0.390 Biomarker disease BEFREE The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred. 10022417 1999
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1 		0.370 Biomarker disease BEFREE Moreover, the symptomatic treatment observation provided referential evidence in the treatment of X-linked AHC associated hypogonadism and bilateral inguinal cryptorchidism. 29176027 2017
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1 		0.370 GeneticVariation disease BEFREE The baby did not have a mutation or deletion of DAX1, which would have caused adrenal insufficiency and hypogonadism. 23612644 2013
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1 		0.370 GeneticVariation disease BEFREE Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ. 23018754 2012
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1 		0.370 GeneticVariation disease BEFREE These cases give further insight into the clinical spectrum of phenotypes of the hypothalamic-pituitary-gonadal axis in patients with variants in hypogonadism associated with childhood-onset X-linked AHC due to DAX-1 mutations. 17803711 2008
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1 		0.370 GeneticVariation disease LHGDN Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity. 18202527 2008
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1 		0.370 GeneticVariation disease BEFREE New mutations in SF1, DAX1 and GnRHR genes were identified in three Brazilian patients with hypogonadism. 14689055 2004
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1 		0.370 Biomarker disease BEFREE Our results suggest that the hypogonadism is due to a combined hypothalamic-pituitary-gonadal defect and imply that the DAX-1 gene may play a critical role in human testicular function. 10522996 1999
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1 		0.370 Biomarker disease CTD_human Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 7990958 1994
Entrez Id: 3972
Gene Symbol: LHB
LHB 		0.350 GeneticVariation disease BEFREE We identified a novel mutation in the LHB gene in a male patient with hypogonadism and provided evidence that LHB nonsense mutation can cause selective LH deficiency. 29476300 2018
Entrez Id: 3972
Gene Symbol: LHB
LHB 		0.350 GeneticVariation disease BEFREE Inactivating Luteinizing hormone beta (LHB) gene mutations are exceptionally rare and lead to hypogonadism that is particularly severe in males. 27656125 2016
Entrez Id: 3972
Gene Symbol: LHB
LHB 		0.350 GeneticVariation disease BEFREE Hypogonadism in a patient with two novel mutations of the luteinizing hormone β-subunit gene expressed in a compound heterozygous form. 22723313 2012
Entrez Id: 3972
Gene Symbol: LHB
LHB 		0.350 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: 3972
Gene Symbol: LHB
LHB 		0.350 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 		0.350 GeneticVariation disease BEFREE Selective luteinizing hormone deficiency due to mutations in the luteinizing hormone beta-subunit gene (LHB) is a rare cause of hypogonadism. 17761593 2007
Entrez Id: 3972
Gene Symbol: LHB
LHB 		0.350 Biomarker disease CTD_human Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene. 15602022 2004