KISS1, KiSS-1 metastasis suppressor, 3814

N. diseases: 179; N. variants: 15
Disease: Idiopathic hypogonadotropic hypogonadism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.040 GeneticVariation disease BEFREE This review focuses on KISS1 and KISS1R mutations found in CPP and IHH and its purposes are twofold: Firstly, based on the mutations found in KISS1 and KISS1R, this review provides insights into the precise mechanism of kisspeptin and the kisspeptin/Kiss1R pathway in the reproductive axis and in puberty. 30339828 2019
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.040 GeneticVariation disease BEFREE The results suggest that mutations in the coding sequence of KISS1 are not common in patients with IHH in this Chinese population. 25783047 2015
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.040 GeneticVariation disease BEFREE Kisspeptin 1 receptor (KISS1R) gene mutations are rare but have recently become an important etiology of normosmic isolated hypogonadotropic hypogonadism (IHH). 22619348 2012
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.040 GeneticVariation disease BEFREE Our objective was to investigate KISS1 mutations in patients with idiopathic CPP and normosmic IHH. 20237166 2010