Mitochondria Phenome Knowledgebase

Phenotypic Feature Movement-disorders finds 63 Gene-Feature associations that are associated with 63 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCB7 301310 Movement-disorders neurologic #4045952 #11118249 #11843825
ABCD1 300100 Movement-disorders neurologic #9702690 #10426149
ALDH18A1 138250 Movement-disorders neurologic #15517380
ALDH5A1 271980 Movement-disorders stereotypical motor movements; catatonic posturing; hyperkinetic movement disorder neurologic #7726383 #9093300 14512218
AMACR 604489 Movement-disorders neurologic #15249642
ATP7B 277900 Movement-disorders involuntary movements; intermittend; thumbs; palms; paroxysmal movements neurologic 3052696 #3595645 8585490 #9160075 #9706533 #10721669 #10864623 #10981891 #11086396 11454376 12376745 #14639035 #15146013 15557537 #15636319 15909172 #15952988
AUH 250950 Movement-disorders neurologic #9762598 #10896289
BCKDHA 248600 Movement-disorders hyperkinesis neurologic 7883996 #12042535
BCS1L 603358 Movement-disorders neurologic #7577396
CLN3 204200 Movement-disorders involuntary movements; incoordination neurologic #9392580 #9450775 #10720276 #12363103 16087292
COX10 220110 Movement-disorders short periods of abnormal movements neurologic 2834526
COX15 220110 Movement-disorders neurologic #15863660
CYB5R3 250800 Movement-disorders hyperkinetic; involuntary movements neurologic 7668255 #7718898 #8874222 #9266404 #10874300
CYP27A1 213700 Movement-disorders neurologic #12000359 #14572142 #16157755
DLAT 245348 Movement-disorders involuntary movements; tics; jerky head movements; incoordination neurologic 16049940
DLD 248600 Movement-disorders neurologic #3769994 #8506365 #12925875 #14765544 #15712224
DLST 203740 Movement-disorders incoordinated movements neurologic #7075624 8295396
ETFA 231680 Movement-disorders neurologic #16510302
ETHE1 602473 Movement-disorders neurologic #9475600 #12382164
FH 606812 Movement-disorders bizarre postures; movement bursts; upper limbs; hypertonic episodes neurologic #1432428 8200987 #15221078 16151915
FXN 229300 Movement-disorders involuntary movements; upper extremities; lower extremities neurologic 9539351 12112211 #12480086 #12745158 #15061120 #15376485
GATM 602360 Movement-disorders stereotypic movements; hands neurologic 12324495 12468279
GCDH 231670 Movement-disorders progressive; involuntary movements neurologic 1137568 #7564239 #7795610 #9850748 9856558 10407775 #10699052 #10960496 #11058907 11174631 #11825066 12888985 #15985591 16377226
GDAP1 214400 Movement-disorders neurologic #16343542
GLDC 605899 Movement-disorders neurologic #15824356 #15851735
HD 143100 Movement-disorders involuntary movements; hyperkinetic movement disorder; hypokinetic movement disorder; incoordination; voluntary movements impaired; jerky movements; odd movements neurologic #1532132 #1825793 2945510 #4280434 #6217782 #7473650 7845404 8474490 8929949 9443350 #9506560 #9771791 10023121 10348461 10483387 10644798 #10749290 11719256 #12075860 12559154 12820545 #14684349 15021927 15042332 #15076012 15121228 15254954 15338298 #15515712 #15526960 #15878590 #16452635
HSD17B10 300438 Movement-disorders directed hand movements absent; tongue movements abnormal neurologic 11102558 #12112118 12555940
HTRA2 168600 Movement-disorders neurologic #15961413
LRPPRC 220111 Movement-disorders neurologic #8392290 #8392291 #11156535
LRRK2 607060 Movement-disorders progressive neurologic #7898705 #11891824 15541308 #15541309 #15680456 #15680457 15726496 #15732106 #15732108 #15852371 #15929036
MFN2 609260 Movement-disorders neurologic #11148244 #15064763 #15136675 #16043786 #16714318
MMAA 251100 Movement-disorders neurologic #12438653
MTRR 236270 Movement-disorders movement abnormal; hyperkinesis neurologic 10484769 12555939 #15714522
NAGS 237310 Movement-disorders abnormal limb movements; pseudo myoclonic movements neurologic 7623444 #16126063
NDUFS1 252010 Movement-disorders neurologic #11349233
NDUFS3 252010 Movement-disorders neurologic #14729820
NDUFS8 252010 Movement-disorders involuntary movements; hands neurologic 15159508
NDUFV1 252010 Movement-disorders involuntary movements neurologic 15576045
OGDH 203740 Movement-disorders neurologic #7075624
OPA1 125250 Movement-disorders dystaxia; partial ataxia; difficulty controlling voluntary movements neurologic 6493699 15531309
OPA3 165300 Movement-disorders neurologic #15342707
OPA3 258501 Movement-disorders movement disorder of variable severity neurologic #7510656 9097959 11668429
OTC 311250 Movement-disorders neurologic #12647200
PANK2 234200 Movement-disorders involuntary movements; tics; tourette like; involuntary postures; progressive; voluntary movements impaired neurologic 7503394 #12510040 #12532925 12697433 #12811783 14639680 #15465096 #15747360 #15812126 15911822 #15944911 16023068 #16149094 #16240131 16437574 16450344
PANK2 607236 Movement-disorders neurologic #1734303 #7898702 #12058097 #14638969
PARK7 105500 Movement-disorders neurologic #16240358
PARK7 606324 Movement-disorders movement abnormalities; slowing of movement neurologic #11462174 #11835383 #12446870 #12953260 15365989 #15565491
PC 266150 Movement-disorders hypokinesia; hypomimia; tremulations; pendular movements neurologic #9585612 16278852
PCCA 606054 Movement-disorders neurologic 9461363 15614906
PCCB 606054 Movement-disorders generalized dystonic movements neurologic 9461363 #10488817 #10780784 15614906
PDHA1 308930 Movement-disorders neurologic #9266390
PDHA1 312170 Movement-disorders neurologic #10679936 #12163191 #15473177 #15558317
PDHX 245349 Movement-disorders abnormal orobuccal movements neurologic #11935326 14518830 #16566017
PEO1 271245 Movement-disorders hand movements abnormal; peculiar facial movements; athetoid movements neurologic 8133312 #8159181 #8552218 #9027505 9879682 #16135556
PINK1 605909 Movement-disorders slowness of movement neurologic #11254447 #15087508 #15349860 #15349870 #15349871 #15505170 #15505171 15596610 #15955953 #15955954 #15970950 #16009891 16207217 #16257123 #16401616 16482571 16547921
POLG 157640 Movement-disorders neurologic #15351195 #15534189
POLG 203700 Movement-disorders neurologic #15689359
POLG 258450 Movement-disorders neurologic #14694057 #15351195 #15477547 #16638794
POLG 607459 Movement-disorders involuntary movements; heads; hands; rapid alternating movements neurologic 12565911 15824347
SCO2 604377 Movement-disorders involuntary movements neurologic #10545952 10805329 #11673586
SLC25A13 603471 Movement-disorders neurologic #11153906 #12602510 #15805705
SLC25A15 238970 Movement-disorders neurologic #11355015 #16376511
SLC25A19 607196 Movement-disorders neurologic #12185364 #12376931
SOD1 105400 Movement-disorders neurologic #7647793
SPAST 182601 Movement-disorders neurologic #12163196 #15667412
SPG7 607259 Movement-disorders neurologic #11222789
SUCLA2 609560 Movement-disorders neurologic #15877282
SUOX 272300 Movement-disorders abnormal movements neurologic #9600976 16140720
SURF1 220110 Movement-disorders involuntary movements; incoordination neurologic 10647889 10746561 #14557577 15214016 #16222681 #16225813
TIMM8A 304700 Movement-disorders difficulties with fine hand movements; writing difficulties; progressive; synkinesias; involuntary head and neck movements; involuntary movements neurologic #7643352 #8841189 10878669 #11405816 #11449109 11601506 12805099 15037720 #15710860 16411215

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