Human | NDUFS7 | 374291 | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) | |
Human | MFSD8 | 256471 | major facilitator superfamily domain containing 8 | |
Human | VPS13B | 157680 | vacuolar protein sorting 13 homolog B (yeast) | |
Human | C8orf38 | 137682 | | |
Human | DNAJC19 | 131118 | DnaJ (Hsp40) homolog, subfamily C, member 19 | |
Human | OPA3 | 80207 | optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) | type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews Onset of optic atrophy in infancy or early childhood |
Human | PANK2 | 80025 | pantothenate kinase 2 | |
Human | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | |
Human | FKRP | 79147 | fukutin related protein | |
Human | PORCN | 64840 | porcupine homolog (Drosophila) | |
Human | MCOLN1 | 57192 | mucolipin 1 | |
Human | GJC2 | 57165 | gap junction protein, gamma 2, 47kDa | |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | |
Human | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
Human | NDUFB11 | 54539 | NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa | INFERRED, Score=800, UMLKSK CUI: C0029124 |
Human | RAB23 | 51715 | RAB23, member RAS oncogene family | |
Human | SOST | 50964 | sclerostin | Optic atrophy from cranial nerve compression |
Human | OSTM1 | 28962 | osteopetrosis associated transmembrane protein 1 | |
Human | NUP62 | 23636 | nucleoporin 62kDa | |
Human | RPIA | 22934 | ribose 5-phosphate isomerase A | |
Human | RAB3GAP1 | 22930 | RAB3 GTPase activating protein subunit 1 (catalytic) | |
Human | SLC19A2 | 10560 | solute carrier family 19 (thiamine transporter), member 2 | Progressive optic atrophy |
Human | TCIRG1 | 10312 | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 | |
Human | ALG3 | 10195 | ALG3, alpha-1,3- mannosyltransferase | |
Human | MFN2 | 9927 | mitofusin 2 | Later onset of optic atrophy (mean 19 years, range 5 to 50 years) Incomplete penetrance of optic atrophy |