Mitochondria Phenome Knowledgebase

Phenotypic Feature Ocular-motility-disorders finds 55 Gene-Feature associations that are associated with 55 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCB7 301310 Ocular-motility-disorders abducens palsy; broken pursuit eye movements ophthalmologic #11050011 11118249 #11843825
ABCD1 300100 Ocular-motility-disorders ophthalmologic #3561956 #9702690 #10980309 #16672758
ACADS 201470 Ocular-motility-disorders ophthalmologic #7776094 #9932958 #15534767
ACADSB 610006 Ocular-motility-disorders ophthalmologic #11013134 #16317551
ALDH5A1 271980 Ocular-motility-disorders ophthalmologic #9093300 #9266358 #10234622
CLN3 204200 Ocular-motility-disorders ophthalmologic #9450775 #15032383
COX10 220110 Ocular-motility-disorders ophthalmologic #2834526 #15455402
COX15 220110 Ocular-motility-disorders eye movements abnormal; incoordination ophthalmologic #15235026 15863660
CPT1A 255120 Ocular-motility-disorders ophthalmologic #11286380
CYB5R3 250800 Ocular-motility-disorders ophthalmologic #8874222 #10874300
CYP27A1 213700 Ocular-motility-disorders extraocular movements abnormal; saccadic intrusions; square wave jerks ophthalmologic 16157755
DGUOK 251880 Ocular-motility-disorders disconjugate eye movements; roving eye movements; eye movements abnormal ophthalmologic #11687800 #12205643 #12210798 #15639197 15883261 #15964659
DLAT 245348 Ocular-motility-disorders reduced; eye movements abnormal; saccade initiation failure; oculomotor apraxia ophthalmologic 16049940
DLD 248600 Ocular-motility-disorders ophthalmologic #3769994 #12925875
DMPK 160900 Ocular-motility-disorders ophthalmologic #5091121 #15326270
ECGF1 603041 Ocular-motility-disorders ophthalmologic #9683610 #12177387 #14757860 #15042378 #15607208 #15742109 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527
ETFA 231680 Ocular-motility-disorders ophthalmologic #12815589
FXN 229300 Ocular-motility-disorders fixation instability ophthalmologic #11809170 #12745158 12878293 16344344
GCDH 231670 Ocular-motility-disorders upward gaze palsy; convergence paralysis; eye movements abnormal; gaze palsy ophthalmologic 11020111 12473778 15985591
GK 307030 Ocular-motility-disorders ophthalmologic #9719371 #11032329 #15026783
HD 143100 Ocular-motility-disorders eye movements abnormal; apraxia of eyelid opening; apraxia of eyelid closing; oculomotor apraxia; apraxia of palpebral movement; saccadic eye movements abnormal; supranuclear gaze palsy; slowed saccades ophthalmologic 2945510 7845404 8474490 9443350 9771791 10348461 10644798 12075860 12559154
HSD17B10 300438 Ocular-motility-disorders ophthalmologic #14729408 #16148061
LRPPRC 220111 Ocular-motility-disorders ophthalmologic #8392290 #8392291 #11156535
MTRR 236270 Ocular-motility-disorders ophthalmologic #12555939 #15714522
NDUFA12L 252010 Ocular-motility-disorders ophthalmologic #16200211
NDUFS1 252010 Ocular-motility-disorders ophthalmologic #11349233 #15576045 #15824269
NDUFS2 252010 Ocular-motility-disorders ophthalmologic #11220739
NDUFS4 252010 Ocular-motility-disorders conjugated eye movements abnormal ophthalmologic 14765537
NDUFS6 252010 Ocular-motility-disorders ophthalmologic #15372108
NDUFS7 252010 Ocular-motility-disorders ophthalmologic #1770777
NDUFS8 252010 Ocular-motility-disorders ophthalmologic #15159508 #16142472
NDUFV1 252010 Ocular-motility-disorders ophthalmologic #10080174 #11349233
OPA1 125250 Ocular-motility-disorders ophthalmologic #4058877 #15531309
OPA1 165500 Ocular-motility-disorders ophthalmologic #9514489 #11017080 #14961560
PANK2 234200 Ocular-motility-disorders apraxia of eyelid opening; oculomotor abnormality; slow saccadic ocular movements; hypometric vertical saccades; slowed vertical saccades; saccadic pursuits; vertical saccades abnormal ophthalmologic 14639680 15911822 16023068
PARK7 105500 Ocular-motility-disorders limited voluntary upward eye movements; eye movements abnormal ophthalmologic 16240358
PC 266150 Ocular-motility-disorders conjugated upgaze; conjugated downgaze; fixed gaze; episodic; oculomotor apraxia ophthalmologic 16278852
PDHA1 308930 Ocular-motility-disorders horizontal gaze paralysis ophthalmologic 1641082
PDHA1 312170 Ocular-motility-disorders paralysis; lateral gaze; gaze fixation abnormal ophthalmologic 7573035 9686362 #15384102
PDHX 245349 Ocular-motility-disorders abnormal ocular movements ophthalmologic #8584393 #11935326 12557299
PEO1 271245 Ocular-motility-disorders horizontal eye movements impaired; vertical eye movements impaired; esophoria; intermittend esophoria; voluntary eye movements restricted; eye movements abnormal ophthalmologic 8133312 #8159181 #8552218 #9027505 9879682 #16135556
PEO1 607459 Ocular-motility-disorders ophthalmologic #15668446
PEO1 609286 Ocular-motility-disorders eye movement disorder; limitation of eye movements; eye movements abnormal ophthalmologic #1634620 #9153451 10522883 12163192 12707443 12921794 15258213
POLG 157640 Ocular-motility-disorders difficulty eye moving; head turning to fixate on objects; eye movements impaired ophthalmologic #2067633 #11431686 12975295 #15351195 #15534189
POLG 203700 Ocular-motility-disorders ophthalmologic #15689359
POLG 258450 Ocular-motility-disorders eye movement disorder; limitation of eye movements; eye movements abnormal ophthalmologic 12707443 #12825077 12975295 #15351195 #15477547 #16401742 #16621917 16638794 16715201
POLG 607459 Ocular-motility-disorders ophthalmologic #12565911 #15824347
POLG2 157640 Ocular-motility-disorders ophthalmologic #16685652
PUS1 600462 Ocular-motility-disorders weak eye closure ophthalmologic 15971356
SCO2 604377 Ocular-motility-disorders extraocular movements limited; ocular movements impaired ophthalmologic #10545952 #10805329 11673586
SDHA 252011 Ocular-motility-disorders gaze fixation abnormal; dysconjugated gaze ophthalmologic 16361598
SLC19A2 249270 Ocular-motility-disorders ophthalmologic #16373304
SLC25A20 212138 Ocular-motility-disorders ophthalmologic #10384385 #10876004
SLC25A4 609283 Ocular-motility-disorders eye movement disorder; limitation of eye movements; ocular myopathy; eye movements abnormal ophthalmologic #10364542 #10926541 #11756613 #12112115 12565915 12707443 #15792871
SPAST 182601 Ocular-motility-disorders ophthalmologic #8931574 #11843700 #12163196 #15667412
SPG7 607259 Ocular-motility-disorders ophthalmologic #14985266 #16534102
SUCLA2 609560 Ocular-motility-disorders ophthalmologic #15877282
SUOX 272300 Ocular-motility-disorders ophthalmologic #10519592 #12001203
SURF1 220110 Ocular-motility-disorders ophthalmologic #9837813 #10647889 #10746561 #14557577 #15214016 #16222681 #16225813
TK2 609560 Ocular-motility-disorders ophthalmologic #12269728 #16504786
UROS 263700 Ocular-motility-disorders ophthalmologic #15065102
WFS1 222300 Ocular-motility-disorders ophthalmologic #9817917

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