MKRN3, makorin ring finger protein 3, 7681

N. diseases: 92; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 Biomarker disease BEFREE Serum Makorin ring finger protein 3 values for predicting Central precocious puberty in girls. 30806524 2019
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE Paternally-inherited loss-of-function mutations in makorin ring finger protein 3 gene (<i>MKRN3</i>) underlie central precocious puberty. 30800097 2019
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE Outcomes of Patients with Central Precocious Puberty due to Loss-of-Function Mutations in MKRN3 Gene After Treatment with Gonadotropin-Releasing Hormone Analog. 31671431 2019
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE Low Frequency of MKRN3 and DLK1 Variants in Chinese Children with Central Precocious Puberty. 31687022 2019
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE Investigation of MKRN3 Mutation in Patients with Familial Central Precocious Puberty 29537379 2018
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE Loss-of-function mutations in the coding region of MKRN3, a maternally imprinted gene at chromosome 15q11.2, are a common cause of familial central precocious puberty (CPP). 29763903 2018
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 AlteredExpression disease BEFREE MKRN3 levels were lower in patients with central precocious puberty compared to prepubertal age-matched ones (p: 0.0004) and comparable to those matched for pubertal stage. 28299573 2018
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 Biomarker disease BEFREE MKRN3 Levels in Girls with Central Precocious Puberty during GnRHa Treatment: A Longitudinal Study. 30269125 2018
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic. 27225315 2017
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE Two Frameshift Mutations in MKRN3 in Turkish Patients with Familial Central Precocious Puberty. 27798941 2017
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls. 25938887 2016
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE Ten girls with sporadic central precocious puberty were screened for mutations in the maternally imprinted gene MKRN3. 27640350 2016
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE Loss-of-function mutations in the imprinted gene MKRN3 represent the most common known genetic defects associated with central precocious puberty (CPP). 27424312 2016
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty. 26173472 2016
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty. 26431553 2016
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 Biomarker disease BEFREE The role of MKRN3, an imprinted gene located in the Prader-Willi syndrome critical region (chromosome 15q11-13), in pubertal initiation was first described in 2013 after the identification of deleterious MKRN3 mutations in five families with central precocious puberty (CPP) using whole-exome sequencing analysis. 25957321 2015
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 GeneticVariation disease 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: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE The role of MKRN3, an imprinted gene located in the Prader-Willi syndrome critical region (chromosome 15q11-13), in pubertal initiation was first described in 2013 after the identification of deleterious MKRN3 mutations in five families with central precocious puberty (CPP) using whole-exome sequencing analysis. 25957321 2015
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty. 26331766 2015
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE MKRN3 mutations in familial central precocious puberty. 25011910 2014
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 GeneticVariation disease BEFREE In this report we describe a family with central precocious puberty associated with a mutation in the makorin RING-finger protein 3 (MKRN3) gene. 25316453 2014
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.400 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
CUI: C3809199
Disease: PRECOCIOUS PUBERTY, CENTRAL, 2
PRECOCIOUS PUBERTY, CENTRAL, 2 		0.400 GeneticVariation disease UNIPROT A novel MKRN3 missense mutation causing familial precocious puberty. 25316453 2014
CUI: C3809199
Disease: PRECOCIOUS PUBERTY, CENTRAL, 2
PRECOCIOUS PUBERTY, CENTRAL, 2 		0.400 GeneticVariation disease UNIPROT MKRN3 mutations in familial central precocious puberty. 25011910 2014
CUI: C3809199
Disease: PRECOCIOUS PUBERTY, CENTRAL, 2
PRECOCIOUS PUBERTY, CENTRAL, 2 		0.400 GeneticVariation disease UNIPROT Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene. 24438377 2014