Mitochondria Phenome Knowledgebase

Phenotypic Feature Pathologic-nystagmus finds 38 Gene-Feature associations that are associated with 38 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCB7 301310 Pathologic-nystagmus hypometric saccades and nystagmus ophthalmologic 11050011 11118249 11843825
ABCD1 300100 Pathologic-nystagmus vertical nystagmus; nystagmoid movement ophthalmologic 9702690 10980309
ACADS 201470 Pathologic-nystagmus rotatory nystagmus; vertical nystagmus; horizontal nystagmus ophthalmologic 7776094 15534767
ALDH5A1 271980 Pathologic-nystagmus optokinetic nystagmus; horizontal nystagmus ophthalmologic 9093300 9266358
CLN3 204200 Pathologic-nystagmus pendular nystagmus; jiggling of the eyes ophthalmologic 9450775 15032383
COX10 220110 Pathologic-nystagmus low amplitude nystagmus ophthalmologic 2834526 15455402
COX15 220110 Pathologic-nystagmus horizontal nystagmus ophthalmologic 15235026
CYP27A1 213700 Pathologic-nystagmus hypermetric saccades; nystagmus in all gaze directions ophthalmologic 16157755
DGUOK 251880 Pathologic-nystagmus oscillating eye movements; pendular nystagmus ophthalmologic 11687800 12205643 12210798 15639197 15883261 15964659
DLAT 245348 Pathologic-nystagmus pendular nystagmus ophthalmologic 16049940
DLD 248600 Pathologic-nystagmus ophthalmologic 3769994 12925875
ECGF1 603041 Pathologic-nystagmus ophthalmologic 15742109
ETFA 231680 Pathologic-nystagmus ophthalmologic 12815589
FXN 229300 Pathologic-nystagmus horizontal nystagmus; Electronystagmography abnormal; dysmetric saccades; saccadic movements ophthalmologic 11809170 12745158 12878293 16344344
GCDH 231670 Pathologic-nystagmus horizontal nystagmus; minor nystagmus; late onset ophthalmologic 12473778
HSD17B10 300438 Pathologic-nystagmus horizontal nystagmus ophthalmologic 14729408 16148061
LRPPRC 220111 Pathologic-nystagmus ophthalmologic 8392290 8392291 11156535
MTRR 236270 Pathologic-nystagmus ophthalmologic 12555939 15714522
NDUFA12L 252010 Pathologic-nystagmus horizontal nystagmus ophthalmologic 16200211
NDUFS1 252010 Pathologic-nystagmus horizontal nystagmus; vertical nystagmus ophthalmologic 11349233 15576045 15824269
NDUFS2 252010 Pathologic-nystagmus horizontal nystagmus ophthalmologic 11220739
NDUFS6 252010 Pathologic-nystagmus nystagmus and slowly drifting eye movements ophthalmologic 15372108
NDUFS7 252010 Pathologic-nystagmus horizontal nystagmus ophthalmologic 1770777
NDUFS8 252010 Pathologic-nystagmus horizontal nystagmus; vertical nystagmus ophthalmologic 15159508 16142472
OPA1 165500 Pathologic-nystagmus horizontal nystagmus ophthalmologic 9514489 11017080 14961560
PC 266150 Pathologic-nystagmus abnormal nystagmus; pendular nystagmus; nystagmus like movements ophthalmologic 16278852
PDHA1 312170 Pathologic-nystagmus ophthalmologic 15384102
POLG 203700 Pathologic-nystagmus ophthalmologic 15689359
POLG 258450 Pathologic-nystagmus vertical nystagmus; gaze evoked nystagmus ophthalmologic 15477547 16638794
POLG 607459 Pathologic-nystagmus horizontal nystagmus; vertical nystagmus; peripheral vestibular dysfunction ophthalmologic 12565911 15824347
SCO2 604377 Pathologic-nystagmus ophthalmologic 10545952 10805329
SDHA 252011 Pathologic-nystagmus bilateral nystagmus; horizontal nystagmus ophthalmologic 16361598
SLC19A2 249270 Pathologic-nystagmus congenital nystagmus ophthalmologic 16373304
SLC25A20 212138 Pathologic-nystagmus nystagmus ophthalmologic 10384385
SPAST 182601 Pathologic-nystagmus horizontal nystagmus ophthalmologic 11843700 12163196 15667412
SPG7 607259 Pathologic-nystagmus cerebellar signs; cerebellar nystagmus ophthalmologic 14985266 16534102
SUOX 272300 Pathologic-nystagmus ophthalmologic 12001203
SURF1 220110 Pathologic-nystagmus ophthalmologic 14557577 15214016 16225813
TK2 609560 Pathologic-nystagmus horizontal nystagmus; mild ophthalmologic 12269728
WFS1 222300 Pathologic-nystagmus ophthalmologic 9817917

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