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GENE - TERM ANNOTATION REPORT

RGD ID: 18917460
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Tmem126a
Name: transmembrane protein 126A
Acc ID: DOID:0111437
Term: optic atrophy 7
Definition: An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19327736 "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)
Tmem126a ISOTMEM126A (Homo sapiens)7240710OMIM  
Tmem126a ISOTMEM126A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy 7PMID:19327736 PMID:20405026 PMID:22815638 PMID:25741868 PMID:28492532 PMID:30369941
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