Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.390 | GeneticVariation | disease | BEFREE | Mutations of KISS1 and KISS1R lead to disorders associated with pubertal development, such as central precocious puberty (CPP) and idiopathic hypogonadotropic hypogonadism (IHH). | 30339828 | 2019 | ||||
|
0.390 | GeneticVariation | disease | BEFREE | Novel DNA variation of GPR54 gene in familial central precocious puberty. | 30635063 | 2019 | ||||
|
0.390 | GeneticVariation | disease | BEFREE | This study aimed to identify the kisspeptin receptor (KISS1R) gene variations and to investigate the associations between these variations and central precocious puberty (CPP). | 27914139 | 2017 | ||||
|
0.390 | AlteredExpression | disease | BEFREE | Recent human studies implicated the activation of kisspeptin and its cognate receptor (KISS1/KISS1R) and the inactivation of MKRN3 in the premature reactivation of GnRH secretion, causing central precocious puberty (CPP). | 25116033 | 2014 | ||||
|
0.390 | GeneticVariation | disease | BEFREE | A unique KISS1R-activating mutation was described in central precocious puberty (CPP). | 20237166 | 2010 | ||||
|
0.390 | GeneticVariation | disease | BEFREE | Mutations in the GPR54 gene have already been identified as a cause of idiopathic hypogonadotrophic hypogonadism and central precocious puberty (CPP) in certain patients. | 20631455 | 2010 | ||||
|
0.390 | GeneticVariation | disease | BEFREE | A GPR54-activating mutation in a patient with central precocious puberty. | 18272894 | 2008 | ||||
|
0.390 | GeneticVariation | disease | BEFREE | GPR54 polymorphisms in Chinese girls with central precocious puberty. | 17700012 | 2007 | ||||
|
0.390 | GeneticVariation | disease | BEFREE | The kisspeptin/GPR54 pathway has been proven to be crucial in the process of puberty onset, yet the polymorphisms in the KISS1 gene and their relationships with central precocious puberty (CPP) have not been investigated. | 17609410 | 2007 | ||||
|
0.390 | Biomarker | disease | CTD_human |