Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 12038610
Species: Pan paniscus
RGD Object: Gene
Symbol: MKRN3
Name: makorin ring finger protein 3
Acc ID: DOID:0112309
Term: central precocious puberty 2
Definition: A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/23738509/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
MKRN3 ISOMKRN3 (Homo sapiens)7240710OMIM  
MKRN3 ISOMKRN3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MKRN3-related condition | ClinVar Annotator: match by term: Precocious puberty, central, 2PMID:23738509 PMID:25741868 PMID:26431553 PMID:28492532 PMID:28672280
Go Back to source page   Continue to Ontology report