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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
optic atrophy 1
Summary
- Synonym
-
- OPA1
- Definition
- An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.
- Super Class
- autosomal dominant disease optic atrophy
External Links
- Disease Ontology
- DOID:0111441
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 50 | ACO2 | aconitase 2 | |
| 1545 | CYP1B1 | cytochrome P450 family 1 subfamily B member 1 | |
| 1608 | DGKG | diacylglycerol kinase gamma | |
| 5313 | PKLR | pyruvate kinase L/R | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A | |
| 6523 | SLC5A1 | solute carrier family 5 member 1 | |
| 11181 | TREH | trehalase | |
| 54732 | TMED9 | transmembrane p24 trafficking protein 9 |
Related Glycoprotein
