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GENE - TERM ANNOTATION REPORT

RGD ID: 735982
Species: Homo sapiens
RGD Object: Gene
Symbol: MITF
Name: melanocyte inducing transcription factor
Acc ID: DOID:0110948
Term: Waardenburg syndrome type 1
Definition: A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/1347148 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20127975 "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 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Waardenburg syndrome type 1PMID:16199547 PMID:20127975 PMID:25741868 PMID:28492532 PMID:30394532 PMID:31541171 PMID:32013026 PMID:34142234 PMID:8659547
MITF ISSMitf (Mus musculus)13592920MouseDOOMIM:193500 
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