Mitochondria Phenome Knowledgebase

Phenotypic Feature Eye-diseases finds 87 Gene-Feature associations that are associated with 87 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABAT 137150 Eye-diseases ophthalmologic #10407778
ABCB7 301310 Eye-diseases ophthalmologic #11050011 #11118249 #11843825
ABCD1 300100 Eye-diseases ophthalmologic #961799 #3561956 #9702690 #10369742 #10426149 #10980309 #11204280 #16380594 #16672758
ACADS 201470 Eye-diseases ophthalmologic #3335634 #3571488 #7776094 #9932958 #15534767
ACADSB 610006 Eye-diseases ophthalmologic #10832746 #11013134 #16317551
ACSL4 300387 Eye-diseases ophthalmologic #11889465
AGXT 259900 Eye-diseases ophthalmologic #2297338 #15580002
ALDH18A1 138250 Eye-diseases ophthalmologic #11092761 #15517380
ALDH5A1 271980 Eye-diseases ophthalmologic #7726383 #9093300 #9266358 #10234622
AMACR 604489 Eye-diseases ophthalmologic #10655068 #11861706 #15249642
ATP7B 277900 Eye-diseases ophthalmologic #8585490 #9160075 #9706533 #10721669 #10864623 #10981891 #11060541 #12376745 #12441847 #12894051 #15557537 #15636319 #15845031 #15952988 #16416207
BCS1L 124000 Eye-diseases ophthalmologic #11528392 #12910490
CLN3 204200 Eye-diseases ophthalmologic #7553855 #9311735 #9392580 #9450775 #10964839 #12363103 #15032383 #15634309 #16087292
COX10 220110 Eye-diseases ophthalmologic #2834526 #10767350 #15455402
COX15 220110 Eye-diseases ophthalmologic #15235026 #15863660
CPT1A 255120 Eye-diseases ophthalmologic #11286380
CPT2 255110 Eye-diseases ophthalmologic #12752755
CPT2 600649 Eye-diseases ophthalmologic #11389301
CYB5R3 250800 Eye-diseases ophthalmologic #8874222 #10874300 #11295830
CYBB 306400 Eye-diseases ophthalmologic #15308575
CYP11B1 202010 Eye-diseases ophthalmologic #11095433
CYP27A1 213700 Eye-diseases ophthalmologic #3344851 #5676919 #7315872 #7915755 #8514861 #9186905 #10430841 #10775536 #11464194 #11903362 #14572142 #15147532 #16157755 #16278884
DGUOK 251880 Eye-diseases ophthalmologic #11687800 #12205643 #12210798 #15639197 #15883261 #15964659
DLAT 245348 Eye-diseases ophthalmologic #16049940
DLD 248600 Eye-diseases ophthalmologic #413089 #3769994 #9540846 #9934985 #10448086 #12925875
DMPK 160900 Eye-diseases ophthalmologic #1301924 #1346925 #5091121 #7811171 #7829609 #8122879 #8140064 #8421476 #9402536 #9576545 #9728948 #9856556 #9863600 #10391974 #10655320 #10733240 #10935840 #11424841 #11874404 #12240714 #12601109 #12639730 #14726854 #15326270 #15770660
DNAJC19 608977 Eye-diseases ophthalmologic #16055927
ECGF1 603041 Eye-diseases dry eyes ophthalmologic #9683610 #12177387 #14720311 #14757860 #15042378 #15607208 #15742109 #15781193 #16120316 #16178026 16198108 #16294144 #16498612 #16530527
ETFA 231680 Eye-diseases ophthalmologic #12815589
ETHE1 602473 Eye-diseases ophthalmologic #7726376
FXN 229300 Eye-diseases ophthalmologic #4673109 #11809170 #11850115 #12745158 #12878293 #16344344
GATM 602360 Eye-diseases ophthalmologic #10762163 #11555793
GCDH 231670 Eye-diseases ophthalmologic #10407775 #11020111 #12473778 #12888985 #15985591
GCK 125851 Eye-diseases ophthalmologic #9049484
GK 307030 Eye-diseases ophthalmologic #9719371 #11032329 #15026783
HADHA 609015 Eye-diseases ophthalmologic #8865274 #14630990 #15902556
HADHA 609016 Eye-diseases ophthalmologic #8094173 #8736409 #9003853 #9593380 #10352164 #12162610 #15347768 #15902556
HADHB 609015 Eye-diseases ophthalmologic #15902556
HD 143100 Eye-diseases ophthalmologic #2945510 #7845404 #8474490 #9443350 #9771791 #10348461 #10644798 #12075860 #12559154 #15338298
HMGCL 246450 Eye-diseases ophthalmologic #1886403 #9439591 #9463337
HSD17B10 300438 Eye-diseases ophthalmologic #11102558 #12112118 #12696021 #14729408 #15059617 #16148061
LRPPRC 220111 Eye-diseases ophthalmologic #8392290 #8392291 #11156535
MFN2 601152 Eye-diseases ophthalmologic #16437557
MFN2 609260 Eye-diseases ophthalmologic #16714318
MPV17 256810 Eye-diseases ophthalmologic #185990 #2300261 #10518083 #16909392
MTRR 236270 Eye-diseases ophthalmologic #10484769 #12555939 #15714522
NDUFA12L 252010 Eye-diseases ophthalmologic #16200211
NDUFS1 252010 Eye-diseases ophthalmologic #11349233 #15576045 #15824269
NDUFS2 252010 Eye-diseases ophthalmologic #11220739
NDUFS3 252010 Eye-diseases ophthalmologic #14729820
NDUFS4 252010 Eye-diseases ophthalmologic #10944442 #14765537
NDUFS6 252010 Eye-diseases ophthalmologic #15372108
NDUFS7 252010 Eye-diseases ophthalmologic #1770777
NDUFS8 252010 Eye-diseases ophthalmologic #9837812 #15159508 #16142472
NDUFV1 252010 Eye-diseases ophthalmologic #10080174 #11349233
OAT 258870 Eye-diseases ophthalmologic #711502 #1301936 #2220818 #2793865 #4068589 #4088625 #6786998 #7887415 #7958031 #8295414 #8701494 #8956655 #8982944 #9893857 #10354199 #10430418 #10604138 #10617919 #11297489 #11831916 #12221166 #15159649 #15750329
OPA1 125250 Eye-diseases ophthalmologic #4058877 #6493699 #12566046 #15531309 #16158427 #16240368
OPA1 165500 Eye-diseases ophthalmologic #9514489 #11017079 #11017080 #11440989 #11735024 #11850115 #12036970 #12488262 #14961560 #15948788 #16331355 #16513463 #16617242
OPA1 606657 Eye-diseases ophthalmologic #11810296 #14551537
OPA3 165300 Eye-diseases ophthalmologic #13703570 #15342707 #15924081
OPA3 258501 Eye-diseases ophthalmologic #7510656 #11668429 #12126933 #15902555
PANK2 234200 Eye-diseases ophthalmologic #7503394 #12510040 #14639680 #15812126 #15911822 #15944911 #16023068 #16240131 #16437574
PANK2 607236 Eye-diseases ophthalmologic #1734303 #7898702 #12058097 #14638969
PARK7 105500 Eye-diseases ophthalmologic #16240358
PC 266150 Eye-diseases ophthalmologic #16278852
PDHA1 308930 Eye-diseases ophthalmologic #1641082
PDHA1 312170 Eye-diseases ophthalmologic #7573035 #8504306 #9686362 #15384102 #16256390
PDHB 179060 Eye-diseases ophthalmologic #15138885
PDHX 245349 Eye-diseases ophthalmologic #8229524 #8584393 #11935326 #12557299
PEO1 271245 Eye-diseases ophthalmologic #8133312 #8159181 #8552218 #9027505 #9879682 #16135556
PEO1 607459 Eye-diseases ophthalmologic #15668446
PEO1 609286 Eye-diseases ophthalmologic #1634620 #9153451 #10522883 #12163192 #12707443 #12921794 #15258213
PINK1 605909 Eye-diseases ophthalmologic #16401616
POLG 157640 Eye-diseases ophthalmologic #2067633 #11431686 #12975295 #15351195 #15534189
POLG 203700 Eye-diseases ophthalmologic #15689359 #16177225 #16545482 #16621917
POLG 258450 Eye-diseases ophthalmologic #12707443 #12825077 #12975295 #15351195 #15477547 #16401742 #16621917 #16638794 #16715201
POLG 607459 Eye-diseases ophthalmologic #12565911 #15824347
POLG2 157640 Eye-diseases ophthalmologic #16685652
PPOX 176200 Eye-diseases ophthalmologic #9763307 #11286631
PUS1 600462 Eye-diseases ophthalmologic #7726239 #14981724 #15971356
SCO2 604377 Eye-diseases ophthalmologic #10545952 #10805329 #11673586 #16765077
SDHA 252011 Eye-diseases ophthalmologic #10976639 #11850115 #16361598
SLC19A2 249270 Eye-diseases ophthalmologic #10874303 #10978358 #14994241 #16373304
SLC25A13 605814 Eye-diseases ophthalmologic #12111366 #15542392
SLC25A15 238970 Eye-diseases ophthalmologic #1432421
SLC25A16 275000 Eye-diseases ophthalmologic #2575220
SLC25A19 607196 Eye-diseases ophthalmologic #12185364 #12376931
SLC25A20 212138 Eye-diseases ophthalmologic #10384385 #10876004
SLC25A22 609304 Eye-diseases ophthalmologic #15592994
SLC25A4 609283 Eye-diseases ophthalmologic #10364542 #10926541 #11756613 #12112115 #12565915 #12707443 #15792871
SPAST 182601 Eye-diseases ophthalmologic #8931574 #11723204 #11843700 #12163196 #15667412
SPG7 607259 Eye-diseases ophthalmologic #9634528 #9635427 #11222789 #14985266 #16534102
SUCLA2 609560 Eye-diseases ophthalmologic #15877282
SUOX 272300 Eye-diseases ophthalmologic #9050047 #9600976 #10519592 #11825068 #12001203 #12112661 #12368985 #15952210 #16140720
SURF1 220110 Eye-diseases ophthalmologic #9837813 #10647889 #10746561 #14557577 #15214016 #16222681 #16225813
TAT 276600 Eye-diseases ophthalmologic #1357662 #2456982 #9544843 #11589874 #12548382 #16318910 #16574453
TIMM8A 304700 Eye-diseases ophthalmologic #7643352 #8841189 #10878669 #11449109 #11601506 #11803487 #12805099 #13771732 #15037720 #15710860
TIMM8A 311150 Eye-diseases ophthalmologic #3425626 #7195649 #11803487
TK2 609560 Eye-diseases ophthalmologic #12269728 #12682338 #16504786
UROS 263700 Eye-diseases ophthalmologic #9092747 #11121156 #12060112 #15065102
WFS1 222300 Eye-diseases ophthalmologic #7490992 #9817917 #10521293 #11260218 #11709538 #12707373 #12754709 #15070927 #15151504 #15277431 #15605410 #16005363 #16151413 #16442662 #16648378

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