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RGD ID: 1604272
Species: Homo sapiens
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 TMEM126A on chromosome 11q14.1. (DO)
Definition Source(s):
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 IAGP 7240710OMIM  
TMEM126A IAGPRGD:85556178554872ClinVarClinVar Annotator: match by term: Optic atrophy 7

PMID:19327736, PMID:20405026, PMID:22815638
TMEM126A IAGPRGD:86914138554872ClinVarClinVar Annotator: match by term: Optic atrophy 7

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.