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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: HP:0008527
Term: Congenital sensorineural hearing impairment
Definition: A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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: Congenital sensorineural hearing impairment

PMID:20127975 PMID:20478267 PMID:22320238 PMID:24194866 PMID:25741868 PMID:28492532 PMID:29407415 PMID:29531335 PMID:30394532 PMID:8659547
MITF IAGP 8699517HPO OMIM:103500
MITF IAGP 8699517HPO OMIM:617306
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