Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs144900788
rs144900788
GNRHR ; UBA6-AS1
0.700 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
dbSNP: rs144900788
rs144900788
GNRHR ; UBA6-AS1
0.700 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382

2013
dbSNP: rs144900788
rs144900788
GNRHR ; UBA6-AS1
0.700 GeneticVariation UNIPROT Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism. 12679486

2003
dbSNP: rs144900788
rs144900788
GNRHR ; UBA6-AS1
0.700 GeneticVariation UNIPROT Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site. 11994356

2002
dbSNP: rs144900788
rs144900788
GNRHR ; UBA6-AS1
0.700 GeneticVariation UNIPROT Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. 11397871

2001
dbSNP: rs144900788
rs144900788
GNRHR ; UBA6-AS1
0.700 GeneticVariation UNIPROT The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. 11397842

2001
dbSNP: rs144900788
rs144900788
GNRHR ; UBA6-AS1
0.700 GeneticVariation UNIPROT A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene. 11318785

2001
dbSNP: rs144900788
rs144900788
GNRHR ; UBA6-AS1
0.700 GeneticVariation UNIPROT Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor. 10523035

1999
dbSNP: rs144900788
rs144900788
GNRHR ; UBA6-AS1
0.700 GeneticVariation UNIPROT Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration. 10084584

1999
dbSNP: rs144900788
rs144900788
GNRHR ; UBA6-AS1
0.700 GeneticVariation UNIPROT The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred. 10022417

1999
dbSNP: rs144900788
rs144900788
GNRHR ; UBA6-AS1
0.700 GeneticVariation UNIPROT Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. 9425890

1998
dbSNP: rs144900788
rs144900788
GNRHR ; UBA6-AS1
0.700 GeneticVariation UNIPROT A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. 9371856

1997