Mitochondria Phenome Knowledgebase

Phenotypic Feature Gait-disorders finds 47 Gene-Feature associations that are associated with 47 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCB7 301310 Gait-disorders gait abnormalities neurologic 4045952 11118249 11843825
ABCD1 300100 Gait-disorders gait abnormalities; frequent falls; unsteady gait; walking difficulties; gait disturbance; stumbling; tripping neurologic 9702690 10980309 11739809 11810273 15564782 16672758
ALDH18A1 138250 Gait-disorders complete loss of the ability to walk neurologic 11092761 15517380
ALDH5A1 271980 Gait-disorders unsteady gait; falling; broad based gait; balance problems neurologic 9093300 15287248
ATP7B 277900 Gait-disorders difficulty walking; limping; shuffling gait; gait disturbance neurologic 3595645 9160075 11086396 12894051 14639035 15557537
BCKDHA 248600 Gait-disorders broad based neurologic 7883996
CLN3 204200 Gait-disorders gait abnormalities neurologic 7553855 9450775
COX10 220110 Gait-disorders gait abnormalities neurologic 2834526
CPT1A 255120 Gait-disorders frequent falling neurologic 9691089
CYP27A1 213700 Gait-disorders gait disturbance; instability; incoordination; shuffling gait; unsteady gait neurologic 5676919 7915755 9186905 11464194 11903362 16157755
CYP27B1 264700 Gait-disorders walking inability neurologic 9486994 10566658
DMPK 160900 Gait-disorders stumbles; falls; abnormal gait patterns; abnormal hip motion neurologic 7811171 8421476 10391974 11284072 12240714 12639730
ECGF1 603041 Gait-disorders gait abnormalities; unsteady gait; unable to walk neurologic 16198108 16294144 16498612
ETHE1 602473 Gait-disorders gait abnormalities neurologic 9475600
FXN 229300 Gait-disorders gait clumsiness; loss of ambulation; balance abnormal; imbalance; romberg positive; spastic gait; gait abnormalities; unsteady; clumsy; tandem gait abnormal; unable to walk; frequent falls; unexplained falls; unsteadiness neurologic 4673109 9326946 9539351 10767311 11425956 11809170 12480086 12745158 12878293 15061120 16344344
GCDH 231670 Gait-disorders gait disturbances; frequent falling; inability walking neurologic 10960496 12888985 15985591
GDAP1 214400 Gait-disorders assymetric; limping; frequent falling; foot drop; clumsy neurologic 12499475 12707075 15377708 15944907 16343542
GDAP1 607706 Gait-disorders steppage gait; clumsy gait; frequent falling; walking problems neurologic 12601710 12821518 15019704 15805163
GDAP1 608340 Gait-disorders steppage gait; clumsy; foot drop neurologic 12566285
HADHA 609015 Gait-disorders waddling; high steppage gait; steppage gait neurologic 7748366
HADHB 609015 Gait-disorders frequent falling neurologic 15902556
HD 143100 Gait-disorders instability; chorea related; walking inability; festinating gait; wide based gait; falls; falling; clumsiness neurologic 1532132 7845404 8474490 9443350 9771791 10644798 11524486 12075860 15042332 15254954 15338298 15526960
HSD17B10 300438 Gait-disorders ataxic gait; unusual postering; stiffness; broad based gait neurologic 12555940 15059617 16148061
KIF1B 118210 Gait-disorders difficulty running; steppage gait neurologic 9409358 11389829
LRRK2 607060 Gait-disorders clumsiness; gait disorder; frequent falling; gait ignition abnormal; poor balance; freezing; slow gait neurologic 15732106 15732108 15929036
MFN2 601152 Gait-disorders steppage gait neurologic 16437557
MFN2 609260 Gait-disorders steppage gait; frequent falling; difficulty running neurologic 11148244 15136675 15549395 16043786 16714318
MPV17 256810 Gait-disorders wide based neurologic 10518083
MTRR 236270 Gait-disorders gait abnormalities neurologic 12555939
NDUFA12L 252010 Gait-disorders wide based neurologic 16200211
NDUFS8 252010 Gait-disorders walking on toes; falling; clumsy; spastic gait; unsteady gait neurologic 15159508 16142472
OPA3 258501 Gait-disorders unsteady gait; broad based neurologic 12126933
OTC 311250 Gait-disorders broad based neurologic 12647200
PANK2 234200 Gait-disorders loss of gait; loss of ambulation; gait dystonia; unsteady gait; walking on toes; tip toe gait; gait disturbances; frequent falls; tandem gait abnormal; freezing; gait akinesia; progressive neurologic 7503394 12532925 12811783 14639680 15465096 15812126 15911822 15944911 16023068 16149094 16240131 16437574
PANK2 607236 Gait-disorders stiff; unsteady; walking on toes neurologic 14638969
PARK7 105500 Gait-disorders walking difficulties neurologic 16240358
PDHA1 308930 Gait-disorders walk incapacity neurologic 9187674
PDHA1 312170 Gait-disorders unable to walk; unsteady gait; falling; dystonic gait disorder neurologic 12379317 15473177 16552546
PDHX 245349 Gait-disorders unsteady gait; wide based gait; falling neurologic 8229524 15303005
PEO1 271245 Gait-disorders loss of ability to walk; gait clumsiness; clumsy neurologic 8133312 8159181 9879682
PEO1 607459 Gait-disorders gait abnormalities; sensory ataxic gait neurologic 15668446
PEO1 609286 Gait-disorders stair climbing problems; poor balance; unsteady neurologic 12163192 15258213
PINK1 605909 Gait-disorders freezing; frozen gait; walking difficulties; hesitating gait; shuffling gait; gait akinesia; festination neurologic 15349860 15349870 15349871 15505170 15596610 15955953 15955954 16009891 16257123 16401616 16547921
POLG 157640 Gait-disorders slowing; unsteadiness; balance difficulties neurologic 12975295 15534189
POLG 258450 Gait-disorders imbalance; romberg positive; unsteadiness; gait unsteadiness; steppage gait neurologic 14694057 15477547 16638794 16715201
POLG 607459 Gait-disorders unsteadiness; imbalance; romberg positive; balance disturbance; frequent falls; steppage gait; gait ataxia neurologic 12565911 15824347
PPOX 176200 Gait-disorders unable to walk neurologic 9763307
PUS1 600462 Gait-disorders gait abnormalities; slow neurologic 14981724
SDHA 252011 Gait-disorders gait abnormalities neurologic 10746566
SLC25A15 238970 Gait-disorders spastic gait; gait disturbances neurologic 10805333 11552031 11668643 11814739 16376511
SOD1 105400 Gait-disorders related to muscle weakness; difficulty walking neurologic 9455983 10430435 10732812 10809943 14517684 14759637
SPAST 182601 Gait-disorders gait problems; unsteadiness; spastic gait; problems running; paretic gait; scissors gait; balance impaired neurologic 10699187 10980739 11134375 11266693 11309678 11723204 11843700 12124993 12163196 12202986 15197701 15210521 15326248 15667412
SPG7 607259 Gait-disorders spastic gait; difficulty running; instability; unsteadiness neurologic 9634528 9635427 11222789 14985266 16534102
SURF1 220110 Gait-disorders loss of deambulation; unable to walk neurologic 10746561 16222681
TIMM8A 304700 Gait-disorders clumsiness; lack of arm swing; gait disturbance neurologic 10878669 11405816 16411215
TIMM8A 311150 Gait-disorders unable to walk; ataxic gait neurologic 3425626 7195649 11803487
TK2 609560 Gait-disorders inability to walk; frequent falling; unsteady gait; loss of ambulation neurologic 1734306 12269728 12391347 12682338 12873860 16504786

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