Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

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): https://www.ncbi.nlm.nih.gov/pubmed/19327736
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

PMID:28492532
Go Back to source page   Continue to Ontology report

NHLBI Logo

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