Mitochondria Phenome Knowledgebase

Phenotypic Feature Ataxia finds 57 Gene-Feature associations that are associated with 55 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCB7 301310 Ataxia cerebellar ataxia; spinocerebellar ataxia; non progressive; dysdiadochokinesia; dysmetria; incoordination; congenital; finger nose ataxia neurologic 4045952 10196363 11050011 11118249 11843825
ABCD1 300100 Ataxia limb; truncal; spastic ataxic gait neurologic 10980309 11204280
ACAT1 203750 Ataxia truncal neurologic 7173255 11161836
ALDH5A1 271980 Ataxia severe; dysmetria; appendicular ataxia; non progressive ataxia; ataxic neurologic 9093300 9683595 10234622 12743223
ATP7B 277900 Ataxia ataxic gait; limbs neurologic 9160075 10721669 15557537
BCKDHA 248600 Ataxia acute; transient neurologic 7883996 12042535 14567968
BCKDHB 248600 Ataxia acute; transient neurologic 14567968
CLN3 204200 Ataxia truncal ataxia neurologic 9392580
COX10 220110 Ataxia hypermetria neurologic 10767350 15455402
CPS1 237300 Ataxia intermittend; gait ataxia neurologic 6465866 9686343 9711878
CYP27A1 213700 Ataxia cerebellar ataxia; gait ataxia; progressive ataxia; dysmetria neurologic 2019602 3344851 5676919 10519880 16157755
DBT 248600 Ataxia acute; transient neurologic 14567968
DLAT 245348 Ataxia neurologic 16049940
DLD 248600 Ataxia mild; episodes; ataxic gait; motor incoordination neurologic 9934985 12925875 14765544
DNAJC19 608977 Ataxia cerebellar; cerebellar ataxia; non progressive neurologic 16055927
ECGF1 603041 Ataxia gait ataxia; sensory ataxia neurologic 15742109 16294144 16498612
ETHE1 602473 Ataxia episodic neurologic 9475600
FXN 229300 Ataxia gait ataxia; limb; progressive ataxia; unremitted; dysmetria; dysdiadochokinesia; spinal ataxia; cerebellar ataxia; truncal ataxia neurologic 3799693 4673109 6231891 9326946 10533031 10607838 10767311 11269509 11351269 11809170 12112211 12480086 12745158 12878293 15061120 15376485 16344344
FXN 229300 Muscle-spasticity late onset ataxia; lower limb spasticity; spastic ataxia; ataxo spastic phenotype neurologic 11425956 11809170 15061120 16344344
GCDH 231670 Ataxia transient; truncal ataxia; gait ataxia neurologic 15985591 16377226
GLDC 605899 Ataxia gait ataxia neurologic 12402263
HADHB 609015 Ataxia mils; ataxic neurologic 15902556
HD 143100 Ataxia cerebellar ataxia; truncal ataxia; dysmetria; ataxic; clumsy neurologic 8929949 10644798 11524486 12820545
HLCS 253270 Ataxia truncal ataxia neurologic 10190325 12855220
HSD17B10 300438 Ataxia neurologic 12112118 16148061
LRPPRC 220111 Ataxia neurologic 8392290 8392291 11156535
MCCC2 210210 Ataxia atactic; mild neurologic 8831079 11181649
MPV17 251880 Ataxia spinocerebellar ataxia neurologic 16582910
MTRR 236270 Ataxia neurologic 10484769
NAGS 237310 Ataxia atactic gait neurologic 9877039 12754705
NDUFA12L 252010 Ataxia mild neurologic 16200211
NDUFS1 252010 Ataxia neurologic 11349233
NDUFS2 252010 Ataxia neurologic 11220739
NDUFS7 252010 Ataxia neurologic 1770777
NDUFS8 252010 Ataxia neurologic 15159508
NDUFV1 252010 Ataxia cerebellar ataxia neurologic 11349233
OPA1 125250 Movement-disorders dystaxia; partial ataxia; difficulty controlling voluntary movements neurologic 6493699 15531309
OPA3 258501 Ataxia atactic gait; ataxic restlessness; non progressive neurologic 7510656 9097959 12126933 15902555
OTC 311250 Ataxia episodic; transient ataxia neurologic 3945292 11260212 12647200 15243986
PANK2 234200 Ataxia ataxic gait; gait ataxia neurologic 12811783 16437574
PDHA1 308930 Ataxia neurologic 9187674
PDHA1 312170 Ataxia episodic; ataxic gait neurologic 8504306 9686362 10679936 12163191 12379317 15384102
PDHX 245349 Ataxia ataxic; mildly; ataxic gait neurologic 14518830 15303005
PEO1 271245 Ataxia spinocerebellar ataxia; cerebellar ataxia neurologic 8133312 8159181 8552218 9879682 16135556
PEO1 607459 Ataxia sensory ataxia; dysmetria neurologic 15668446
POLG 157640 Ataxia neurologic 12975295 15351195
POLG 203700 Ataxia neurologic 15689359
POLG 258450 Ataxia balance disturbance; sensory ataxia; progressive ataxia; sensory ataxia; cerebellar ataxia; ataxic neuropathy neurologic 12825077 12975295 14694057 15477547 16621917 16638794
POLG 607459 Gait-disorders unsteadiness; imbalance; romberg positive; balance disturbance; frequent falls; steppage gait; gait ataxia neurologic 12565911 15824347
POLG 607459 Ataxia sensory ataxia; dysdiadochokinesia; dysmetria; unsteadiness; titubation; ataxic gait; ataxic neurologic 12565911 15824347
SDHA 252011 Ataxia cerebellar syndrome; progressive neurologic 10746566 10976639
SDHD 168000 Ataxia ataxic gait neurologic 11526495
SLC19A2 249270 Ataxia neurologic 14994241
SLC25A13 603471 Ataxia neurologic 12512993
SLC25A15 238970 Ataxia dysdiadochokinesia; dysmetria neurologic 10805333 11355015 11552031
SLC25A4 609283 Ataxia ataxic gait neurologic 12565915
SPAST 182601 Ataxia upper extremities; limb ataxia; cerebellar ataxia neurologic 11723204 15667412
SPG7 607259 Ataxia cerebellar ataxia; limb ataxia neurologic 14985266 16534102
SUOX 272300 Ataxia neurologic 9600976
SURF1 220110 Ataxia truncal; imbalance; dysmetria; progressive ataxia neurologic 9837813 10746561 14557577 15214016 16222681 16225813
TIMM8A 304700 Ataxia heel neurologic 12805099
WFS1 222300 Ataxia neurologic 9817917 15605410

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