Human | ARX | 170302 | aristaless related homeobox | |
Human | PANK2 | 80025 | pantothenate kinase 2 | |
Human | GJC2 | 57165 | gap junction protein, gamma 2, 47kDa | |
Human | APTX | 54840 | aprataxin | Choreoathetosis (in 79%), more frequent at disease onset |
Human | PNKD | 25953 | paroxysmal nonkinesigenic dyskinesia | Choreoathetosis, episodic |
Human | NUP62 | 23636 | nucleoporin 62kDa | Choreoathetosis of the face, trunk, extremities |
Human | HUWE1 | 10075 | HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase | |
Human | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Non-purposeful arm movements, choreoathetoid-like |
Human | XPA | 7507 | xeroderma pigmentosum, complementation group A | |
Human | NKX2-1 | 7080 | | Allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress ({610978}), which is a more severe disorder |
Human | SUOX | 6821 | sulfite oxidase | |
Human | CDKL5 | 6792 | cyclin-dependent kinase-like 5 | |
Human | SLC2A1 | 6513 | solute carrier family 2 (facilitated glucose transporter), member 1 | Choreoathetosis (in a subset of patients) |
Human | PLP1 | 5354 | proteolipid protein 1 | |
Human | PDHA1 | 5160 | pyruvate dehydrogenase (lipoamide) alpha 1 | |
Human | MECP2 | 4204 | methyl CpG binding protein 2 (Rett syndrome) | Choreoathetosis (described in 1 patient) |
Human | HSPD1 | 3329 | heat shock 60kDa protein 1 (chaperonin) | |
Human | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | |
Human | HSD17B10 | 3028 | hydroxysteroid (17-beta) dehydrogenase 10 | |
Human | GCDH | 2639 | glutaryl-CoA dehydrogenase | |
Human | FTL | 2512 | ferritin, light polypeptide | |
Human | ERCC6 | 2074 | excision repair cross-complementing rodent repair deficiency, complementation group 6 | |
Human | ERCC2 | 2068 | excision repair cross-complementing rodent repair deficiency, complementation group 2 | |
Human | ATN1 | 1822 | atrophin 1 | |
Human | DDC | 1644 | dopa decarboxylase (aromatic L-amino acid decarboxylase) | |