Human | GDF6 | 392255 | growth differentiation factor 6 | INFERRED, Score=800, UMLKSK CUI: C0393593 |
Human | NDUFS7 | 374291 | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) | |
Human | NEWENTRY | 192343 | Record to support submission of GeneRIFs for a gene not in Gene (human; man). | DYT16, a novel young-onset dystonia-parkinsonism disorder, identification of a segregating mutation in the stress-response protein PRKRA |
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 | THAP1 | 55145 | THAP domain containing, apoptosis associated protein 1 | INFERRED, Score=800, UMLKSK CUI: C0393593 |
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 | 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. 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. Myoclonus-dystonia due to SGCE protein mutations is characterized by early onset myoclonic jerks, often associated with dystonia onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the epsilon-sarcoplycan mutation carriers |
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 |