GNRH1, gonadotropin releasing hormone 1, 2796

N. diseases: 179; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 GeneticVariation disease UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 Biomarker disease GENOMICS_ENGLAND Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations. 22724017 2012
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 Biomarker disease MGD Sertoli cell androgen receptor DNA binding domain is essential for the completion of spermatogenesis. 19574395 2009
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 GeneticVariation disease UNIPROT Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. 19535795 2009
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 Biomarker disease MGD Gonadotrophin-releasing hormone deficiency in a mutant mouse with hypogonadism. 198666 1977
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 Biomarker disease CTD_human
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 CausalMutation disease CLINVAR
CUI: C1856897
Disease: Eunuchoidism, familial hypogonadotropic
Eunuchoidism, familial hypogonadotropic 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.650 Biomarker disease BEFREE Defective migration of the GnRH-1 neurons to the brain, lack of GnRH-1 secretion or signaling cause hypogonadotropic hypogonadism (HH), a pathology characterized by delayed or absence of puberty. 30881290 2019
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.650 Biomarker disease BEFREE The association of olfactory defects with HH in KS suggested a potential direct relationship between defective olfactory axonal routing, lack of olfactory bulbs (OBs) and aberrant GnRH-1 ns migration. 28970231 2017
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.650 Therapeutic disease CTD_human [Testosterone and infertility]. 20063086 2010
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.650 GeneticVariation disease BEFREE Hypogonadotropic hypogonadism and GNRH1 mutations in mice and humans. 20389089 2010
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.650 GeneticVariation disease BEFREE Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. 19535795 2009
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.650 Biomarker disease MGD Sertoli cell androgen receptor DNA binding domain is essential for the completion of spermatogenesis. 19574395 2009
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.650 Biomarker disease BEFREE Misrouted cell surface GnRH receptors as a disease aetiology for congenital isolated hypogonadotrophic hypogonadism. 15073146 2004
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.650 Biomarker disease MGD Gonadotrophin-releasing hormone deficiency in a mutant mouse with hypogonadism. 198666 1977
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.650 Biomarker disease HPO
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.380 GeneticVariation disease BEFREE Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide. 26595427 2016
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.380 Biomarker disease CTD_human We identified a homozygous GNRH1 frameshift mutation, an insertion of an adenine at nucleotide position 18 (c.18-19insA), in the sequence encoding the N-terminal region of the signal peptide-containing protein precursor of gonadotropin-releasing hormone (prepro-GnRH) in a teenage brother and sister, who had normosmic IHH. 19535795 2009
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.380 GeneticVariation disease BEFREE We identified a homozygous GNRH1 frameshift mutation, an insertion of an adenine at nucleotide position 18 (c.18-19insA), in the sequence encoding the N-terminal region of the signal peptide-containing protein precursor of gonadotropin-releasing hormone (prepro-GnRH) in a teenage brother and sister, who had normosmic IHH. 19535795 2009
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.380 GeneticVariation disease BEFREE GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. 19567835 2009
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.380 GeneticVariation disease BEFREE We concluded that: 1) genetic analysis has excluded sequence variations in GNRH1 and GNRHR in four families with recessive IHH, suggesting the existence of a novel, as-yet-undiscovered gene for this condition, and 2) because mutation analysis of genomic coding sequence will fail to detect mutations deep within introns or regulatory regions, haplotype analysis is the preferred genetic methodology to eliminate the role of specific candidate genes. 12788881 2003
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.380 Biomarker disease BEFREE The GnRH gene was excluded as a candidate gene in IHH since no abnormality was found in several patients. 10698591 1999
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.380 GeneticVariation disease BEFREE We conclude that most cases of IHH in humans do not involve mutations in the GnRH gene and are presumably caused by mutations at one or more other genetic loci that are required for normal function of GnRH-producing neurons. 1756212 1991
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.380 GeneticVariation disease BEFREE We examined the GnRH gene structure in a family with familial central precocious puberty (eight members, four affected) and a family with idiopathic hypogonadotropic hypogonadism (eight members, three affected) using Southern blot analysis and sequencing of cloned polymerase chain reaction products. 2186053 1990