Send us a Message



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

GENE - TERM ANNOTATION REPORT

RGD ID: 735983
Species: Mus musculus
RGD Object: Gene
Symbol: Mitf
Name: melanogenesis associated transcription factor
Acc ID: DOID:9258
Term: Waardenburg syndrome
Definition: A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Waardenburg_syndrome "DO" "DO", http://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1 "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract "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)
Mitf ISOMITF (Homo sapiens)1599944RGD  
Mitf ISOMITF (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Waardenburg syndromePMID:30311386
Go Back to source page   Continue to Ontology report