MKRN3, makorin ring finger protein 3, 7681

N. diseases: 92; N. variants: 13
Disease: Prader-Willi Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 AlteredExpression disease BEFREE MKRN3 is a paternally expressed, imprinted gene located in the Prader-Willi syndrome critical region (chromosome 15q11-q13). 23738509 2013
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 Biomarker disease BEFREE We conclude that a deficiency of MKRN3, MAGEL2 and NDN is not sufficient to cause PWS. 19066619 2009
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 Biomarker disease BEFREE The most rapidly repressed gene was MKRN3, an imprinted gene involved in the Prader-Willi syndrome. 12736119 2003
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 Biomarker disease BEFREE It locates next to the Zfp127 imprinted gene in the mouse 7C region, which has syntenic homology to the human Prader-Willi syndrome region on chromosome 15q11-q13, indicating that this imprinted region extends to the telomeric side in the mouse. 11779183 2002
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 GeneticVariation disease BEFREE Therefore, our data indicate that although the DNA methylation imprints of ZNF127 and 5' SNRPN arise in the germline and are present in brain, only 5' SNRPN maintains the imprint in tissues suitable for the prenatal diagnosis of AS and PWS. 10740202 2000
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 Biomarker disease BEFREE Therefore, Zfp127 is a novel imprinted gene that may play a role in the imprinted phenotype of mouse models of PWS. 10196368 1999
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 Biomarker disease BEFREE Therefore, ZNF127 and ZNF127AS are novel imprinted genes that may be associated with some of the clinical features of the polygenic Prader-Willi syndrome. 10196367 1999
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 AlteredExpression disease BEFREE Mice with a larger deletion involving both Snrpn and the putative PWS-IC lack expression of the imprinted genes Zfp127 (mouse homologue of ZNF127), Ndn and Ipw, and manifest several phenotypes common to PWS infants. 9590284 1998
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 Biomarker disease BEFREE We have exploited this characteristic of an imprinted region by using FISH at D15S9 and SNRPN (small nuclear ribonucleo protein N) on interphase nuclei to distinguish between Angelman and Prader-Willi syndrome patient samples with uniparental disomy of chromosome 15q11-q13 (n = 11) from those with biparental inheritance (n = 13). 8755930 1996
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 GeneticVariation disease BEFREE About 70% of patients with Prader-Willi syndrome (PWS) and Angelman syndrome (AS) have a common interstitial de novo microdeletion encompassing paternal (PWS) or maternal (AS) loci D15S9 to D15S12. 8641697 1996
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 GeneticVariation disease BEFREE Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome. 8266996 1993
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 GeneticVariation disease BEFREE We have recently described a parent-specific DNA methylation imprint in a gene at the D15S9 locus (new gene symbol, ZNF127), within the 15q11-q13 region, that identifies AS and PWS patients with either a deletion or UPD. 8242060 1993
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 GeneticVariation disease BEFREE Five of the polymorphic loci (D15S9-13) map to the region implicated in the cause of the PWS (15q11.2-15q12). 2568752 1989
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.400 Biomarker disease CTD_human