KISS1R, KISS1 receptor, 84634

N. diseases: 195; N. variants: 14
Disease: Precocious Puberty ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.360 GeneticVariation disease BEFREE Loss and gain of functional mutations in the GPR54 gene are associated with hypogonadotropic hypogonadism and precocious puberty, respectively. 30635063 2019
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.360 GeneticVariation disease BEFREE Inactivating and activating mutations in both KISS1 or GPR54 genes were associated with hypogonadotropic hypogonadism and precocious puberty. 30205368 2018
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.360 GeneticVariation disease BEFREE In humans, inactivating GPR54 mutations cause normosmic hypogonadotrophic hypogonadism whilst activation of GPR54 signalling is associated with premature puberty. 23256725 2013
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.360 GeneticVariation disease BEFREE Specific mutations in GPR54 gene cause either delayed/absent puberty or precocious puberty. 22376279 2012
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.360 GeneticVariation disease BEFREE Two gain-of-function mutations of the KISS1 and KISS1R genes were implicated in the pathogenesis of GnRH-dependent precocious puberty, previously considered idiopathic. 21664234 2011
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.360 GeneticVariation disease LHGDN GPR54 polymorphisms in Chinese girls with central precocious puberty. 17700012 2007
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.360 Biomarker disease CTD_human