Mitochondria Phenome Knowledgebase

Phenotypic Feature Retinal-diseases finds 27 Gene-Feature associations that are associated with 27 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Retinal-diseases pigmentary changes; retinal ganglion cell degeneration ophthalmologic 3561956
AGXT 259900 Retinal-diseases bilateral; symmetric; crystalline; oxalate retinopathy; maculopathy; crystalline deposits; intraretinal hemorrhages; retinal oxalate deposits ophthalmologic 2297338 15580002
ALDH5A1 271980 Retinal-diseases retinitis pigmentosa ophthalmologic 7726383
AMACR 604489 Retinal-diseases retinitis pigmentosa; pigmentary retinal changes; retinopathy ophthalmologic 10655068 11861706 15249642
CLN3 204200 Retinal-diseases retinitis pigmentosa; retinal dystrophy; retinal atrophy; pigment aggregations; mottling of the retinal pigment epithelium; attenuation of the retinal arterioles; retinal degeneration; choriocapillaris reduced ophthalmologic 9311735 9392580 9450775 10964839 15032383
COX10 220110 Retinal-diseases tapetoretinal degeneration ophthalmologic 2834526
COX15 220110 Retinal-diseases retinopathy ophthalmologic 15235026
CYP27A1 213700 Retinal-diseases premature retinal aging; retinal vessel sclerosis; cholesterol like deposits ophthalmologic 14572142
DGUOK 251880 Retinal-diseases immature retina ophthalmologic 15883261
ECGF1 603041 Retinal-diseases pigmentary retinopathy; hypopigmentation ophthalmologic 14720311 15042378
ETHE1 602473 Retinal-diseases lesions with tortuous vessels ophthalmologic 7726376
GCDH 231670 Retinal-diseases retinal hemorrhages; intraretinal hemorrhages; pigmentary retinopathy ophthalmologic 10407775 11020111 12888985
GCK 125851 Retinal-diseases proliferative retinopathy; uncommon finding ophthalmologic 9049484
HADHA 609015 Retinal-diseases retinitis pigmentosa ophthalmologic 8865274 14630990 15902556
HADHA 609016 Retinal-diseases retinitis pigmentosa; pigmentary aggregations; retinal hypopigmentation; retinal atrophy; chorioretinal atrophy; retinopathy ophthalmologic 8094173 8736409 9003853 9593380 10352164 12162610 15347768 15902556
HADHB 609015 Retinal-diseases retinitis pigmentosa; mild ophthalmologic 15902556
HSD17B10 300438 Retinal-diseases nonpigmentary; retinal degeneration; retinitis pigmentosa ophthalmologic 11102558 14729408
NDUFS2 252010 Retinal-diseases photoreceptors ophthalmologic 11220739
OAT 258870 Retinal-diseases atrophic areas; atrophic lesions; retina degeneration; diffuse retinopathy; RPE mottling; chorioretinal atrophy; chorioretinal dystrophy ophthalmologic 711502 1301936 2220818 2793865 #4068589 4088625 6786998 7887415 7958031 8295414 10354199 10430418 10617919 11297489 11831916 15159649 15750329
PANK2 234200 Retinal-diseases retinal degeneration; pigmentary retinopathy; maculopathy ophthalmologic 7503394 12510040 15812126 15911822 15944911 16023068 16240131 16437574
PANK2 607236 Retinal-diseases retinitis pigmentosa; tapetoretinal degeneration ophthalmologic 1734303 7898702 12058097 14638969
POLG 157640 Retinal-diseases pigmentary retinopathy ophthalmologic 15351195
POLG 607459 Retinal-diseases pepper and salt retinopathy; retinopathy ophthalmologic 12565911
SLC19A2 249270 Retinal-diseases retinitis pigmentosa; retinal degeneration; cone rod dystrophy; retinal dystrophy ophthalmologic 10874303 10978358 14994241 16373304
SLC25A15 238970 Retinal-diseases retinal depigmentation; chorioretinal thinning ophthalmologic 1432421
SLC25A22 609304 Retinal-diseases abnormal retinal function ophthalmologic 15592994
SLC25A4 609283 Retinal-diseases pigmentary retinopathy ophthalmologic 11756613 15792871
TIMM8A 304700 Retinal-diseases retina atrophy; neuronal loss; fibrosis ophthalmologic 11803487
UROS 263700 Retinal-diseases severe retinal dragging ophthalmologic 15065102
WFS1 222300 Retinal-diseases diabetic retinopathy; proliferative ophthalmologic 11709538 15070927 15277431

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