Mitochondria Phenome Knowledgebase

Phenotypic Feature Dystonic-disorders finds 38 Gene-Feature associations that are associated with 38 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Dystonic-disorders dystonic posturing neurologic 10426149
ALDH18A1 138250 Dystonic-disorders dystonia of the hands; dystonia of the feet neurologic 15517380
ALDH5A1 271980 Dystonic-disorders dystonia neurologic 7726383
ATP7B 277900 Dystonic-disorders intermittent; dystonic posturing; arms; dystonic movements; dystonia neurologic 8585490 9706533 10981891 11086396 14639035 15557537 15909172
AUH 250950 Dystonic-disorders dystonic; involuntary movements; dystonic cerebral palsy neurologic 9762598 10896289
BCKDHA 248600 Dystonic-disorders dystonia; dystonic; dystonic posturing; dystonic rigidity neurologic 12042535
BCS1L 603358 Dystonic-disorders dystonic; involuntary movements neurologic 7577396
CLN3 204200 Dystonic-disorders oromandibular dystonia neurologic 9450775
COX15 220110 Dystonic-disorders dystonic postures; upper limbs neurologic 15863660
CYB5R3 250800 Dystonic-disorders dystonic cerebral palsy; cerebral palsy neurologic 7668255 9266404
DLAT 245348 Dystonic-disorders paroxysmal; episodes; face; hands; feet; chlenching of hands; stress triggered neurologic 16049940
DLD 248600 Dystonic-disorders dystonic movements; upper extremities neurologic 3769994 8506365 12925875
ETFA 231680 Dystonic-disorders dystonia neurologic 16510302
ETHE1 602473 Dystonic-disorders dystonic posturing; jaw; tongue neurologic 9475600 12382164
FH 606812 Dystonic-disorders dystonic posturing; hypertonic posturing; hands; lower extremites; dystonic tetraplegia neurologic 1432428 8200987 15221078 16151915
FXN 229300 Dystonic-disorders dystonic posturing; arm; feet; ankle inversion; writers cramp neurologic 12480086
GCDH 231670 Dystonic-disorders dystonic dyskinetic; dystonic cerebral palsy; dystonic posturing; crippling dystonia; dystonic postures neurologic 1137568 7564239 7795610 9850748 9856558 10699052 10960496 11058907 11174631 11825066 12888985
HD 143100 Dystonic-disorders dystonic movements; dystonic posturing; dystonia neurologic 2945510 7845404 8474490 9443350 10644798 15254954 15338298
HSD17B10 300438 Dystonic-disorders dystonic posturing neurologic 12112118 12555940
LRPPRC 220111 Dystonic-disorders dystonia neurologic 8392290 8392291 11156535
LRRK2 607060 Dystonic-disorders foot dystonia; early morning dystonia neurologic 15680456 15680457 15732106 15852371
MTRR 236270 Dystonic-disorders dystonia neurologic 15714522
NDUFS1 252010 Dystonic-disorders dystonia neurologic 11349233
NDUFS3 252010 Dystonic-disorders dystonia neurologic 14729820
NDUFS8 252010 Dystonic-disorders dystonic posturing neurologic 15159508
PANK2 234200 Dystonic-disorders face; fingers; facial grimacing; orofacial dystonia; oromandibular dystonia; blepharospasm; dystonic posturing neurologic 7503394 12510040 12532925 12697433 15747360 15812126 15911822 15944911 16023068 16240131 16437574 16450344
PANK2 607236 Dystonic-disorders orofacial; orobuccolingual dystonia neurologic 1734303 7898702 12058097 14638969
PARK7 606324 Dystonic-disorders focal dystonia; dyskinesia; orofacial; blepharospasm; lower extremities dystonia neurologic 11835383 12446870 12953260 15565491
PCCB 606054 Dystonic-disorders dystonic movements; generalized neurologic 9461363 10780784
PDHA1 312170 Dystonic-disorders dystonic gait disorder; dystonic neurologic 10679936 15473177
PDHX 245349 Dystonic-disorders progressive neurologic 11935326 16566017
PINK1 605909 Dystonic-disorders at onset; dystonic posturing; lower extremities; foot dystonia; torticollis; painful dystonia neurologic 11254447 15349860 15349870 15505170 15955953 15955954 16009891 16257123 16401616 16547921
POLG 203700 Dystonic-disorders atactic neurologic 15689359
SCO2 604377 Dystonic-disorders limbs neurologic 10545952 10805329
SLC25A19 607196 Dystonic-disorders mild; diffuse neurologic 12185364 12376931
SUCLA2 609560 Dystonic-disorders dystonic posturing; fingers neurologic 15877282
SUOX 272300 Dystonic-disorders dystonia neurologic 9600976
SURF1 220110 Dystonic-disorders dystonic posturing; arms; legs; dystonia neurologic 10746561 14557577 16222681
TIMM8A 304700 Dystonic-disorders dystonic posturing; involuntary movements; facial grimacing; blepharospasm; generalized; focal; torticollis; action dystonia; oromandibular dystonia; cervical dystonia neurologic 7643352 8841189 10878669 11405816 11449109 11601506 12805099 15037720 15710860 16411215

©2006-2009 Stanford Genome Technology Center, Stanford University | Webmastercreative commons