DISEASES

Disease-gene associations mined from literature

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Human genes for optic atrophy 10

Optic atrophy 10 [DOID:0111434]

An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in RTN4IP1 on chromosome 6q21.

Synonyms:  optic atrophy 10,  DOID:0111434,  OPA10,  optic atrophy 10 with or without ataxia, mental retardation, and seizures,  and seizures optic atrophy 10 with or without ataxia, mental retardation ...

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.