Mitochondria Phenome Knowledgebase

Phenotypic Feature Optic-nerve-diseases finds 34 Gene-Feature associations that are associated with 34 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Optic-nerve-diseases optic nerve hypoplasia; optic pallor ophthalmologic 961799 3561956
ACADS 201470 Optic-nerve-diseases bilateral optic atrophy; optic atrophy ophthalmologic 15534767
AGXT 259900 Optic-nerve-diseases optic disc pallor; optic nerve dysfunction ophthalmologic 2297338 15580002
ALDH18A1 138250 Optic-nerve-diseases alteration of the optical nerves; Visual evoked potentials abnormal ophthalmologic 15517380
ALDH5A1 271980 Optic-nerve-diseases optic atrophy ophthalmologic 7726383
AMACR 604489 Optic-nerve-diseases optic atrophy; optic disk atrophy ophthalmologic 11861706 15249642
CLN3 204200 Optic-nerve-diseases optic atrophy; pale optic disc; peripapillary atrophy ophthalmologic 9392580 9450775 10964839 12363103
CYP27A1 213700 Optic-nerve-diseases visual evoked potential abnormal; bilateral; electric retrobulbar optic neuropathy; optic disk paleness ophthalmologic 14572142 16278884
DLD 248600 Optic-nerve-diseases optic neuropathy ophthalmologic 413089 9540846
DNAJC19 608977 Optic-nerve-diseases optic atrophy ophthalmologic 16055927
ECGF1 603041 Optic-nerve-diseases glaucomatous like; optic neuropathy ophthalmologic 15042378 16178026
FXN 229300 Optic-nerve-diseases LHON like; optic atrophy ophthalmologic 4673109 11850115 12878293
HSD17B10 300438 Optic-nerve-diseases optic atrophy; bilaterally; opticus atrophy ophthalmologic 12112118 14729408 16148061
LRPPRC 220111 Optic-nerve-diseases optic neuropathy; optic atrophy ophthalmologic 8392290 8392291 11156535
MFN2 601152 Optic-nerve-diseases pale optic disc; optic atrophy ophthalmologic 16437557
MFN2 609260 Optic-nerve-diseases optic atrophy; subacute onset ophthalmologic 16714318
NDUFA12L 252010 Optic-nerve-diseases optic atrophy; pale optic disc ophthalmologic 16200211
NDUFS1 252010 Optic-nerve-diseases optic atrophy; bilateral ophthalmologic 11349233
NDUFS2 252010 Optic-nerve-diseases bilateral; optic disc pallor ophthalmologic 11220739
NDUFS3 252010 Optic-nerve-diseases optic disc pallor; mild ophthalmologic 14729820
NDUFS7 252010 Optic-nerve-diseases optic atrophy; bilateral ophthalmologic 1770777
OPA1 125250 Optic-nerve-diseases optic atrophy; optic nerve pallor ophthalmologic 4058877 6493699 12566046 15531309 16158427 16240368
OPA1 165500 Optic-nerve-diseases congenital; juvenile; bilateral symmetrical; optic nerve pallor; optic atrophy ophthalmologic 9514489 11017079 11017080 11440989 11735024 11850115 12036970 12488262 14961560 15948788 16331355 16513463 16617242
OPA1 606657 Optic-nerve-diseases glaucomatous optic neuropathy ophthalmologic 11810296 14551537
OPA3 165300 Optic-nerve-diseases optic atrophy ophthalmologic 13703570 15342707 15924081
OPA3 258501 Optic-nerve-diseases infantile; bilateral; optic atrophy; MRI findings; retrobulbar optic atrophy; intracranial optic atrophy ophthalmologic 7510656 11668429 12126933 15902555
PANK2 234200 Optic-nerve-diseases optic atrophy ophthalmologic 12510040 15911822
PDHA1 312170 Optic-nerve-diseases optic atrophy ophthalmologic 15384102 16256390
PDHX 245349 Optic-nerve-diseases optic atrophy; bilateral ophthalmologic 8229524
PEO1 271245 Optic-nerve-diseases pale optic disk; optic atrophy ophthalmologic 8133312 8159181 8552218 9027505 9879682 16135556
POLG 203700 Optic-nerve-diseases optic disc pallor ophthalmologic 15689359 16177225 16545482
SDHA 252011 Optic-nerve-diseases constricted visual field; optic atrophy ophthalmologic 10976639 11850115
SLC19A2 249270 Optic-nerve-diseases optic atrophy; progressive ophthalmologic 10874303 14994241 16373304
SPG7 607259 Optic-nerve-diseases pale optic disc; optic disc pallor ophthalmologic 9634528 9635427 11222789
SUOX 272300 Optic-nerve-diseases optic disc pallor; bilateral; optic atrophy ophthalmologic 10519592
SURF1 220110 Optic-nerve-diseases optic atrophy ophthalmologic 15214016 16225813
TIMM8A 304700 Optic-nerve-diseases optic disc pallor; VEP latencies prolonged; optic nerve degeneration; optic nerve fiber loss; fibrosis ophthalmologic 10878669 11449109 11803487 12805099
TIMM8A 311150 Optic-nerve-diseases optic nerve atrophy; demyelinating; progressive; optic neuropathy ophthalmologic 3425626 7195649 11803487
WFS1 222300 Optic-nerve-diseases optic atrophy; pale optic disc; bilateral; progressive ophthalmologic 7490992 9817917 10521293 11260218 12707373 12754709 15070927 15151504 15277431 15605410 16005363 16151413 16442662 16648378

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