Human | GDF6 | 392255 | growth differentiation factor 6 | INFERRED, Score=800, UMLKSK CUI: C0013421 |
Human | NDUFS7 | 374291 | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) | |
Human | ARX | 170302 | aristaless related homeobox | Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation (ARX) |
Human | C8orf38 | 137682 | | |
Human | PANK2 | 80025 | pantothenate kinase 2 | |
Human | FA2H | 79152 | fatty acid 2-hydroxylase | Mutations in FA2H are associated with leukodystrophy with spastic paraparesis and dystonia |
Human | PINK1 | 65018 | PTEN induced putative kinase 1 | |
Human | JPH3 | 57338 | junctophilin 3 | |
Human | MCOLN1 | 57192 | mucolipin 1 | |
Human | APTX | 54840 | aprataxin | |
Human | MMADHC | 27249 | methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria | |
Human | CHMP2B | 25978 | charged multivesicular body protein 2B | |
Human | PNKD | 25953 | paroxysmal nonkinesigenic dyskinesia | |
Human | NUP62 | 23636 | nucleoporin 62kDa | |
Human | VPS13A | 23230 | vacuolar protein sorting 13 homolog A (S. cerevisiae) | |
Human | TREX1 | 11277 | three prime repair exonuclease 1 | |
Human | NPC2 | 10577 | Niemann-Pick disease, type C2 | |
Human | SGCE | 8910 | sarcoglycan, epsilon | onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the epsilon-sarcoplycan mutation carriers Title:The epsilon-sarcoglycan gene in myoclonic syndromes.|Association:Not Found|Conclusion:We found mutations (four of them novel) in six (21%) of the 29 patients with essential myoclonus and myoclonic dystonia, but did not find mutations in the 29 patients with other phenotypes. Myoclonus-dystonia due to SGCE protein mutations is characterized by early onset myoclonic jerks, often associated with dystonia Title:Clinical and molecular genetic evaluation of patients with primary dystonia|Association:Not Found|Conclusion:Our study supports the notion that primary dystonia is a genetically heterogeneous disease. |
Human | PLA2G6 | 8398 | phospholipase A2, group VI (cytosolic, calcium-independent) | |
Human | PDHX | 8050 | pyruvate dehydrogenase complex, component X | |
Human | CNBP | 7555 | CCHC-type zinc finger, nucleic acid binding protein | See myotonic dystonia 1 (DM1, {160900}) for a disorder with a similar phenotype |
Human | VCP | 7415 | valosin containing protein | |
Human | TH | 7054 | tyrosine hydroxylase | tyrosine hydroxylase deficiency results not in predominating dystonia, a largely nondegenerative condition, but in a progressive often lethal neurometabolic disorder, which can be improved but not cured by L-dopa |
Human | TBP | 6908 | TATA box binding protein | Title:Mutation at the SCA17 locus is not a common cause of primary dystonia|Association:Not Found|Conclusion:We conclude that the SCA17 repeat expansion is not a common cause of familial and sporadic dystonia. |
Human | TAF1 | 6872 | TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa | Parkinsonism, levodopa-responsive (occurs at later stages, may replace dystonia symptoms) |