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GENE - TERM ANNOTATION REPORT

RGD ID: 1562627
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mafa
Name: MAF bZIP transcription factor A
Acc ID: DOID:0080786
Term: Brown-Vialetto-Van Laere syndrome 2
Definition: A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/20206331/ "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)
Mafa ISOMAFA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526
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