Diseases

Displaying all 8 entries

Protein Name	Gene Name	Uniprot ID	Disease Name	References
Ornithine aminotransferase, mitochondrial	Oat	Q6LDF7	Optic Atrophy	Richards, S. et al. (Genet Med, 2015)
Gamma-enolase	Eno2	P17183	Optic Atrophy	Dubois-Dauphin, M. et al. (Neuroscience, 2000)
Gamma-enolase	Eno2	P07323	Optic Atrophy	Dubois-Dauphin, M. et al. (Neuroscience, 2000)
Ubiquitin carboxyl-terminal hydrolase isozyme L1	Uchl1	Q9R0P9	Optic Atrophy	McKeon, J. E. et al. (Cell Mol Life Sci, 2015)
Ubiquitin carboxyl-terminal hydrolase isozyme L1	Uchl1	Q00981	Optic Atrophy	McKeon, J. E. et al. (Cell Mol Life Sci, 2015)
60S ribosomal protein L24	Rpl24	Q8BP67	Optic Atrophy	Tang, Q. et al. (Dev Biol, 1999) and 4 others Tang, Q. et al. (Dev Biol, 1999), Smith, R. S. et al. (Proc Natl Acad Sci U S A, 2000), Oliver, E. R. et al. (Development, 2004), Rice, D. S. et al. (Mamm Genome, 1995), Rice, D. S. et al. (Invest Ophthalmol Vis Sci, 1997)
60S ribosomal protein L24	Rpl24	P83732	Optic Atrophy	Tang, Q. et al. (Dev Biol, 1999) and 4 others Tang, Q. et al. (Dev Biol, 1999), Smith, R. S. et al. (Proc Natl Acad Sci U S A, 2000), Oliver, E. R. et al. (Development, 2004), Rice, D. S. et al. (Mamm Genome, 1995), Rice, D. S. et al. (Invest Ophthalmol Vis Sci, 1997)
Aconitate hydratase, mitochondrial	Aco2	Q99KI0	Optic Atrophy	Metodiev, M. D. et al. (J Med Genet, 2014), Angebault, C. et al. (Am J Hum Genet, 2015)