MKRN3, makorin ring finger protein 3, 7681

N. diseases: 92; N. variants: 13
Disease: Cryptogenic sexual precocity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271527
Disease: Cryptogenic sexual precocity
Cryptogenic sexual precocity 		0.320 GeneticVariation phenotype BEFREE Very recently, the makorin RING finger protein 3 (MKRN3) gene, located on chromosome 15 in the Prader-Willi syndrome (PWS)-associated region (15q11-q13), has been found mutated in 5 families with familial precocious puberty. 26499472 2015
CUI: C0271527
Disease: Cryptogenic sexual precocity
Cryptogenic sexual precocity 		0.320 GeneticVariation phenotype BEFREE A novel MKRN3 missense mutation causing familial precocious puberty. 25316453 2014
CUI: C0271527
Disease: Cryptogenic sexual precocity
Cryptogenic sexual precocity 		0.320 Biomarker phenotype CTD_human Central precocious puberty caused by mutations in the imprinted gene MKRN3. 23738509 2013