Mitochondria Phenome Knowledgebase

Phenotypic Feature Vision-disorders finds 54 Gene-Feature associations that are associated with 54 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABAT 137150 Vision-disorders no response to light; non reactive pupils ophthalmologic 10407778
ABCB7 301310 Vision-disorders binocular vision abnormal ophthalmologic 11118249
ABCD1 300100 Vision-disorders blindness; cortical blindness; loss of vision; hemianopsia; visual disturbances; visual loss; blind ophthalmologic 961799 3561956 9702690 10369742 10426149 10980309 11204280 16380594
ACADSB 610006 Vision-disorders visual skills impaired ophthalmologic 10832746
AGXT 259900 Vision-disorders visual impairment; vision loss ophthalmologic 2297338 15580002
ALDH5A1 271980 Vision-disorders poor sight ophthalmologic 9266358
AMACR 604489 Vision-disorders visual field restriction; visual acuity restriction; Perimetry abnormal; blindness; failing vision ophthalmologic 10655068 11861706 15249642
ATP7B 277900 Vision-disorders decreased vision; progressive visual loss; visual symptoms ophthalmologic 12441847
BCS1L 124000 Vision-disorders blindness ophthalmologic 11528392
CLN3 204200 Vision-disorders blindness; progressive vision loss; visual evoked potential abnormal; visual failure; poor vision ophthalmologic 7553855 9311735 9392580 9450775 10964839 15032383 15634309 16087292
COX10 220110 Vision-disorders poor eye contact; weak fixation; blindness ophthalmologic 2834526 10767350 15455402
CPT2 255110 Vision-disorders ophthalmologic #12752755
CYB5R3 250800 Vision-disorders amaurosis; blindness ophthalmologic 11295830
CYP11B1 202010 Vision-disorders blurred vision; vision loss; related to hypertension ophthalmologic 11095433
CYP27A1 213700 Vision-disorders visual impairment ophthalmologic 7915755 16157755
DGUOK 251880 Vision-disorders optic dysplasia; mild optic dysplasia ophthalmologic 15883261
DLD 248600 Vision-disorders impaired vision; suspected cortical damage; cortical blindness; blindness ophthalmologic 9934985 10448086 12925875
DMPK 160900 Vision-disorders ophthalmologic #15326270
ECGF1 603041 Vision-disorders ophthalmologic #14757860
FXN 229300 Vision-disorders visual loss; recovery; visual acuity decreased ophthalmologic 4673109 11850115 16344344
GATM 602360 Vision-disorders visual skills impaired; visual perceptual abilities impaired ophthalmologic 10762163 11555793
HADHA 609016 Vision-disorders amblyopia; central scotoma; choroidal vessel atrophy; central vision loss; posterior staphylomas; blindness ophthalmologic 9003853 #9593380 15347768
HD 143100 Vision-disorders visual disturbance ophthalmologic 15338298
HMGCL 246450 Vision-disorders poor vision; visual response abnormal ophthalmologic 1886403 9439591 9463337
HSD17B10 300438 Vision-disorders blindness; visual function abnormal; visual evoked potentials abnormal; amaurosis; amaurotic ophthalmologic 11102558 12112118 12696021 14729408 15059617 16148061
MFN2 601152 Vision-disorders visual impairment; bilateral; central; scotoma; visual evoked potential abnormal; VEP amplitude decreased; VEP pattern delayed; subacute; decline of visual acuity; recovery of visual acuity ophthalmologic 16437557
MPV17 256810 Vision-disorders due to corneal scarring ophthalmologic 10518083
MTRR 236270 Vision-disorders blindness ophthalmologic 10484769
NDUFS4 252010 Vision-disorders no visual fixation; cortical blindness; visual evoked responses absent ophthalmologic 10944442
NDUFS8 252010 Vision-disorders evoked potentials delayed; for all modalities tested; absent optical blink ophthalmologic 9837812
NDUFV1 252010 Vision-disorders blind ophthalmologic 10080174
OAT 258870 Vision-disorders progressive; vision loss; peripheral; night blindness; tunnel vision; blindness; visual acuity impaired; decreased vision; hypermetropia; hypermetropic astigmatism; vitreous opacities; constriction of visual field ophthalmologic 1301936 2220818 2793865 7958031 8701494 8982944 9893857 10354199 10430418 10617919 11297489 11831916 12221166 15159649 15750329
OPA1 125250 Vision-disorders visual acuity impaired; central scotoma; cecocentral scotomas; visual deterioration ophthalmologic 6493699 12566046 15531309 16158427
OPA1 165500 Vision-disorders visual field defect; decreased visual acuity; scotoma; centrocecal scotoma; central scotoma; cecocentral scotoma; vision loss; blind spot enlargement; blindness ophthalmologic 9514489 11017079 11017080 11440989 11735024 11850115 12036970 12488262 14961560 15948788 16331355 16513463 16617242
OPA1 606657 Vision-disorders optic nerve axons loss; visual field damage; visual field loss ophthalmologic 11810296 14551537
OPA3 165300 Vision-disorders visual impairment; bilateral; central; scotomata; visual acuity decreased; blindness ophthalmologic 15342707
OPA3 258501 Vision-disorders visual acuity decreased ophthalmologic 12126933
PANK2 234200 Vision-disorders vision deficit; visual failure; blindness ophthalmologic 15944911 16437574
PANK2 607236 Vision-disorders poor night vision; visual field constriction ophthalmologic 7898702 14638969
PDHA1 312170 Vision-disorders blindness; poor visual contact; cortical blindness ophthalmologic 8504306 15384102 16256390
PDHB 179060 Vision-disorders visual evoked responses absent; no visual fixation ophthalmologic 15138885
PDHX 245349 Vision-disorders impairment of vision ophthalmologic 11935326
PEO1 271245 Vision-disorders myopia; hyperopia; visual acuity impaired; VEP abnormal; VEP latencies delayed ophthalmologic 8133312
PEO1 609286 Vision-disorders blurred vision ophthalmologic 12163192 #12921794
POLG 157640 Vision-disorders ophthalmologic #15534189
POLG 203700 Vision-disorders vision loss; blindness; cortical blindness; blindness ophthalmologic 15689359 16177225 16545482 16621917
POLG 258450 Vision-disorders blindness; cortical blindness; visual signs; blurred vision; scotomata; flashes; visual phenomena ophthalmologic 15477547 16638794
POLG 607459 Vision-disorders blurred vision; viual field defect; positive phenomena such as stars lights flashing ophthalmologic 15824347
PPOX 176200 Vision-disorders visual problems ophthalmologic 9763307
SDHA 252011 Vision-disorders complete vision loss ophthalmologic 16361598
SLC19A2 249270 Vision-disorders astigmatism; visual abnormalities; VEP abnormal; peripheral vision loss ophthalmologic 10978358 14994241 16373304
SLC25A16 275000 Vision-disorders ophthalmologic #2575220
SLC25A19 607196 Vision-disorders visual impairment; no response; optokinetic testing ophthalmologic 12185364 12376931
SLC25A22 609304 Vision-disorders visual nerve conduction velocity abnormal ophthalmologic 15592994
SPAST 182601 Vision-disorders rapid onset of visual disturbance; visual acuity impaired; hemianopia ophthalmologic 11723204
SUOX 272300 Vision-disorders blindness; cortical blindness; no visual fixation; visual response absent ophthalmologic 10519592 11825068 15952210
SURF1 220110 Vision-disorders visual evoked potential abnormal; decreased vision ophthalmologic 10647889 16222681
TAT 276600 Vision-disorders visual acuity decreased; recurrent red eyes; ophthalmalgia; eye pain ophthalmologic #1357662 #9544843 11589874 #12548382 16318910 16574453
TIMM8A 304700 Vision-disorders visual field defect; visual acuity decreased; constricted field; visual evoked potentials abnormal; blindness; cortical blindness; visual loss; visual disability ophthalmologic 7643352 8841189 10878669 11449109 11601506 12805099 13771732 15037720 15710860
TIMM8A 311150 Vision-disorders visual acuity decreased; VEP latencies prolonged ophthalmologic 3425626 7195649 11803487
TK2 609560 Vision-disorders VEP delayed; P100 responses delayed ophthalmologic 12682338
UROS 263700 Vision-disorders related to scarring; amblyopia ophthalmologic 12060112 15065102
WFS1 222300 Vision-disorders loss of visual acuity; progressive; blindness; visual impairment ophthalmologic 15151504 15277431 16442662 16648378

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