Human | NDUFS7 | 374291 | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) | |
Human | IMP5 | 162540 | | INFERRED, Score=800, UMLKSK CUI: C0029089 |
Human | C8orf38 | 137682 | | |
Human | LRRK2 | 120892 | leucine-rich repeat kinase 2 | INFERRED, Score=800, UMLKSK CUI: C0029089 |
Human | ROBO3 | 64221 | roundabout, axon guidance receptor, homolog 3 (Drosophila) | Ophthalmoplegia, progressive external |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | We describe a new de novo mutation (1110C>A) in the PEO1 gene in patients with Ophthalmoplegia, Chronic Progressive External in a mother and her two sons |
Human | APTX | 54840 | aprataxin | INFERRED, Score=800, UMLKSK CUI: C0029089 |
Human | MINK1 | 50488 | misshapen-like kinase 1 | INFERRED, Score=800, UMLKSK CUI: C0029089 |
Human | OSTM1 | 28962 | osteopetrosis associated transmembrane protein 1 | Extraocular muscle paralysis |
Human | TARDBP | 23435 | TAR DNA binding protein | INFERRED, Score=800, UMLKSK CUI: C0029089 |
Human | SLC9A6 | 10479 | solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 | |
Human | TCIRG1 | 10312 | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 | Extraocular muscle paralysis |
Human | WNT3 | 7473 | wingless-type MMTV integration site family, member 3 | INFERRED, Score=800, UMLKSK CUI: C0029089 |
Human | TKT | 7086 | transketolase | |
Human | TFAM | 7019 | transcription factor A, mitochondrial | INFERRED, Score=800, UMLKSK CUI: C0029089 |
Human | SURF1 | 6834 | surfeit 1 | |
Human | SNCA | 6622 | synuclein, alpha (non A4 component of amyloid precursor) | INFERRED, Score=800, UMLKSK CUI: C0029089 |
Human | SDHA | 6389 | succinate dehydrogenase complex, subunit A, flavoprotein (Fp) | |
Human | ATXN7 | 6314 | ataxin 7 | INFERRED, Score=800, UMLKSK CUI: C0029089 |
Human | ATXN2 | 6311 | ataxin 2 | |
Human | POLRMT | 5442 | polymerase (RNA) mitochondrial (DNA directed) | INFERRED, Score=800, UMLKSK CUI: C0029089 |
Human | POLG | 5428 | polymerase (DNA directed), gamma | five cases of adult onset autosomal recessive sensory ataxic neuropathy with ophthalmoplegia caused by POLG mutations |
Human | PIN1 | 5300 | peptidylprolyl cis/trans isomerase, NIMA-interacting 1 | INFERRED, Score=800, UMLKSK CUI: C0029089 |
Human | OPA1 | 4976 | optic atrophy 1 (autosomal dominant) | Some patients develop ophthalmoplegia in middle age This study describes a mutation in OPA1 causing a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia |
Human | NSF | 4905 | N-ethylmaleimide-sensitive factor | INFERRED, Score=800, UMLKSK CUI: C0029089 |