MKRN3, makorin ring finger protein 3, 7681

N. diseases: 92; N. variants: 13
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 		0.340 GeneticVariation disease BEFREE Given that MKRN3 mutation was detected in only one patient, with a paternal history of precocious puberty, this reinforces the importance of accurate family history taking. 29537379 2018
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.340 GeneticVariation disease BEFREE This study supports the impact of MKRN3 SNP rs12441827 on precocious puberty in Korean boys. 30053798 2018
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.340 GeneticVariation disease BEFREE Our results are in line with previous studies in which paternally inherited MKRN3 mutations have been found both in males and in females with ICPP or early puberty. 26331766 2015
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.340 GeneticVariation disease BEFREE We report a novel MKRN3 mutation (p.C340G) in a girl with CPP and her brother with early puberty. 24438377 2014
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.340 Biomarker disease CTD_human Central precocious puberty caused by mutations in the imprinted gene MKRN3. 23738509 2013