Mitochondria Phenome Knowledgebase

Phenotypic Feature Neurologic-manifestations finds 147 Gene-Feature associations that are associated with 147 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 238700 Neurologic-manifestations neurologic #5796356 #6015890
AASS 268700 Neurologic-manifestations neurologic #5018656 #5690339
ABAT 137150 Neurologic-manifestations neurologic #6148708 #9746906 #10407778
ABCB7 301310 Neurologic-manifestations neurologic #4045952 #10196363 #11050011 #11118249 #11843825
ABCD1 300100 Neurologic-manifestations neurologic #7849723 #9702690 #10369742 #10426149 #10980309 #11204280 #11739809 #11810273 #14586615 #15564782 #16380594 #16672758
ACADL 201460 Neurologic-manifestations neurologic #1945557 #2000272 #4022672 #8739959
ACADM 201450 Neurologic-manifestations neurologic #2279505 #7876853 #7929823 #9158144 #11263545 #11346377 #11349232 #11486912 #11524729 #12897989 #15858970
ACADS 201470 Neurologic-manifestations neurologic #2808706 #3335634 #3571488 #7776094 #9499414 #9578969 #9932958 #11134486 #11524729 #12061367 #14595061 #15534767
ACADSB 610006 Neurologic-manifestations neurologic #10832746 #11013134 #12837870 #16317551
ACADVL 201475 Neurologic-manifestations neurologic #7479827 #9546340 #9709714 #9877038 #10910451 #11158518 #11433098 #11524729 #16443431 #16488171
ACAT1 203750 Neurologic-manifestations neurologic #1349518 #7173255 #8930414 #9700610 #10604145 #11161836 #12754704 #15877211
ACSL4 300387 Neurologic-manifestations neurologic #11889465 #12525535
ALAS2 301300 Neurologic-manifestations neurologic #12663458
ALDH18A1 138250 Neurologic-manifestations neurologic #11092761 #15517380
ALDH4A1 239510 Neurologic-manifestations neurologic #4825691
ALDH5A1 271980 Neurologic-manifestations neurologic #8803774 #9093300 #9266358 #9683595 #10234622 #11901270 #12743223 #14512218 #15037717 #15059623 #15287248
AMACR 604489 Neurologic-manifestations neurologic #10655068 #11861706 #15249642
AMT 605899 Neurologic-manifestations neurologic #8005589 #9600239 #9621520 #12948742 #15236413 #16450403
ATP7B 277900 Neurologic-manifestations neurologic #3595645 #9160075 #9706533 #10721669 #10864623 #11086396 #12376745 #12894051 #14639035 #15557537 #15636319 #15909172
ATPAF2 604273 Neurologic-manifestations neurologic #14757859
AUH 250950 Neurologic-manifestations neurologic #3082934 #6181239 #9762598 #10896289 #12434311
BCKDHA 248600 Neurologic-manifestations neurologic #1885764 #2060625 #2703538 #7672509 #7883996 #8161368 #12042535 #12118532 #14517957 #14567968 #14742428 #16601891
BCKDHB 248600 Neurologic-manifestations neurologic #2022752 #7672509 #8161368 #11448970 #14567968 #14742428
BCS1L 124000 Neurologic-manifestations neurologic #11528392 #12910490
BCS1L 603358 Neurologic-manifestations neurologic #7577396 #12215968
CLN3 204200 Neurologic-manifestations neurologic #7553855 #9311735 #9392580 #9450775 #10720276 #12363103 #15032383 #15634309 #16087292
COX10 220110 Neurologic-manifestations neurologic #2834526 #10767350 #12928484 #15455402
COX15 220110 Neurologic-manifestations neurologic #12474143 #15235026 #15863660
CPOX 121300 Neurologic-manifestations neurologic #11074238 #11202054 #11739202 #15896662
CPS1 237300 Neurologic-manifestations neurologic #6465866 #8273985 #8486760 #9309714 #9686343 #9711878 #11301219 #11474210 #11536261 #12955727 #15617192
CPT1A 255120 Neurologic-manifestations neurologic #9691089 #11286380 #11350182 #11350183 #11441142 #15669684 #16146704
CPT2 255110 Neurologic-manifestations neurologic #8201482 #8358442 #8786066 #8815169 #9600456 #10090476 #10398215 #10862092 #11999976 #12410208 #12752755 #15642848 #15776096
CPT2 600649 Neurologic-manifestations neurologic #1528846 #1999498 #8682496 #11389301 #11477613 #12410208 #12560872
CYB5R3 250800 Neurologic-manifestations neurologic #2107882 #7668255 #7718898 #8119939 #8874222 #9266404 #9886302 #10874300 #15744830 #16304354
CYBA 233690 Neurologic-manifestations neurologic #1763037
CYP11A1 201710 Neurologic-manifestations neurologic #11502818 #16705068
CYP11B2 124080 Neurologic-manifestations neurologic #11238478 #12788848
CYP27A1 213700 Neurologic-manifestations neurologic #1763899 #2019602 #3344851 #5676919 #7315872 #7915755 #8514861 #9186905 #10430841 #10519880 #10775536 #11464194 #11903362 #12000359 #14572142 #15147532 #16157755 #16278884
CYP27B1 264700 Neurologic-manifestations neurologic #9415400 #9486994 #9837822 #10566658 #12050193
DBT 248600 Neurologic-manifestations neurologic #2010537 #9239422 #9621512 #12118532 #14508502 #14517957 #14567968 #14742428
DGUOK 251880 Neurologic-manifestations neurologic #12205643 #12210798 #15639197 #15883261 #15887277 #15964659 #16263314
DLAT 245348 Neurologic-manifestations neurologic #16049940
DLD 248600 Neurologic-manifestations neurologic #3769994 #6897145 #8506365 #8652022 #8968745 #9298831 #9540846 #9934985 #10448086 #11687750 #12925875 #14765544 #15712224
DLST 203740 Neurologic-manifestations neurologic #1640293 #7075624 #8295396
DMPK 160900 Neurologic-manifestations neurologic #1301924 #1346925 #7811171 #7829609 #7853378 #8122879 #8140064 #8293615 #8421476 #8742989 #8891827 #9270517 #9402536 #9445543 #9521960 #9576545 #9728948 #9856556 #9863600 #10323316 #10367695 #10385049 #10391974 #10655320 #10690232 #10733240 #10935840 #11140408 #11284072 #11407162 #11424841 #11455309 #11549662 #11807903 #11874404 #11874420 #11888847 #12190956 #12240714 #12601109 #12639730 #12832322 #14521021 #14726854 #15326270 #15596617 #15770660 #16190971
DNAJC19 608977 Neurologic-manifestations neurologic #16055927
ECGF1 603041 Neurologic-manifestations neurologic #9683610 #12177387 #14720311 #14757860 #15742109 #16178026 #16198108 #16294144 #16498612 #16530527
ETFA 231680 Neurologic-manifestations neurologic #12486872 #12815589 #16510302
ETFB 231680 Neurologic-manifestations neurologic #12706375 #12815589
ETFDH 231680 Neurologic-manifestations neurologic #10356148 #12815589 #15662686 #15669683
ETHE1 602473 Neurologic-manifestations neurologic #1683940 #7726376 #9475600 #12382164 #14732903
FECH 177000 Neurologic-manifestations neurologic #11886534
FH 606812 Neurologic-manifestations neurologic #1432428 #2515378 #8200987 #9635293 #15221078 #16151915 #16156009
FXN 229300 Neurologic-manifestations neurologic #3799693 #4673109 #6231891 #9326946 #9539351 #10533031 #10607838 #10767311 #11269509 #11351269 #11425956 #11809170 #12112211 #12480086 #12745158 #12878293 #15061120 #15376485 #16344344
GATM 602360 Neurologic-manifestations neurologic #10762163 #11555793 #12324495 #12468279
GCDH 231670 Neurologic-manifestations neurologic #7564239 #7795610 #9856558 #10407775 #10960496 #11174631 #11825066 #12473778 #12888985 #15985591 #16377226
GCK 602485 Neurologic-manifestations neurologic #9435328 #11916951
GCSH 605899 Neurologic-manifestations neurologic #1671321 #12402263
GDAP1 214400 Neurologic-manifestations neurologic #11743579 #11743580 #12499475 #12707075 #15377708 #15944907 #16343542
GDAP1 607706 Neurologic-manifestations neurologic #11743580 #12601710 #12821518 #15019704 #15805163
GDAP1 608340 Neurologic-manifestations neurologic #12566285
GFM1 609060 Neurologic-manifestations neurologic #15537906
GK 307030 Neurologic-manifestations neurologic #8651297 #9719371 #10851254 #11032329 #11479736 #15026783 #15303806
GLDC 605899 Neurologic-manifestations neurologic #1634607 #10798358 #12402263 #15236413 #15824356 #15851735 #15864413 #16450403
GLUD1 606762 Neurologic-manifestations neurologic #8769351 #9108870 #9571255 #10636977 #11214910 #11297618 #16151898
HADH 231530 Neurologic-manifestations neurologic #10347277 #14693719
HADHA 609015 Neurologic-manifestations neurologic #2019931 #7738175 #7748366 #8865274 #9739053 #10400133 #14630990 #15902556
HADHA 609016 Neurologic-manifestations neurologic #7846063 #8094173 #8736409 #9003853 #9403664 #10352164 #12162610 #14605499
HADHB 609015 Neurologic-manifestations neurologic #12548384 #12754706 #15617873 #15902556 #16423905
HD 143100 Neurologic-manifestations neurologic #1532132 #1825793 #2136908 #2945510 #7473650 #7845404 #8474490 #8929949 #9443350 #9771791 #10023121 #10348461 #10644798 #10749290 #11524486 #12075490 #12075860 #12559154 #12820545 #14684349 #15042332 #15121228 #15254954 #15338298 #15515712 #15526960 #15878590
HLCS 253270 Neurologic-manifestations neurologic #2515377 #8541348 #8817339 #9686819 #10190325 #10234606 #10653324 #10770035 #11735028 #12124727 #12633764 #12855220 #16134170
HMGCL 246450 Neurologic-manifestations neurologic #1886403 #3128690 #8440722 #9439591 #9463337 #11129331 #11461194
HMGCS2 605911 Neurologic-manifestations neurologic #9337379 #11479731 #12072887
HSD17B10 300438 Neurologic-manifestations neurologic #11102558 #12112118 #12555940 #14729408 #15059617 #16148061
HSD3B2 201810 Neurologic-manifestations neurologic #10770215
HSPD1 605280 Neurologic-manifestations neurologic #10677329 #11898127
HTRA2 168600 Neurologic-manifestations neurologic #15961413
IVD 243500 Neurologic-manifestations neurologic #8765634 #8830183 #9673537 #10191353 #10677295 #12911192 #15486829 #15624372 #16040844 #16602101
KIF1B 118210 Neurologic-manifestations neurologic #9409358 #11389829
LRPPRC 220111 Neurologic-manifestations neurologic #8392290 #8392291 #11156535 #16143014
LRRK2 607060 Neurologic-manifestations neurologic #7898705 #11891824 #15541308 #15541309 #15680456 #15680457 #15726496 #15732106 #15732108 #15852371 #15929036
MAOA 309850 Neurologic-manifestations neurologic #8211186 #12919132
MCCC1 210200 Neurologic-manifestations neurologic #2738779 #10485305 #11170888 #11181649 #11893004
MCCC2 210210 Neurologic-manifestations neurologic #1293382 #7128647 #8831079 #9537490 #11170888 #11181649 #15877210
ME2 600669 Neurologic-manifestations neurologic #15532013
MFN2 601152 Neurologic-manifestations neurologic #16437557
MFN2 609260 Neurologic-manifestations neurologic #8406488 #9409358 #10732809 #11148244 #12601114 #15064763 #15136675 #15549395 #16043786 #16087932 #16714318
MLYCD 248360 Neurologic-manifestations neurologic #7609455 #9869665 #11550227 #12955715 #16275149
MMAA 251100 Neurologic-manifestations neurologic #6132336 #12438653 #15781192
MMAB 251110 Neurologic-manifestations neurologic #6132336 #12471062 #16410054
MPV17 251880 Neurologic-manifestations neurologic #16582910
MPV17 256810 Neurologic-manifestations neurologic #185990 #10518083 #11431741
MRPS16 609204 Neurologic-manifestations neurologic #15505824
MTRR 236270 Neurologic-manifestations neurologic #10484769 #12555939 #12971424 #15714522
MUT 251000 Neurologic-manifestations neurologic #9554742 #10893496 #10923046 #11161845 #11350191 #12402345 #12948746 #15643616 #15781199 #16186538 #16281286 #16451139
NAGS 237310 Neurologic-manifestations neurologic #7623444 #9877039 #12447942 #12594532 #12754705 #15480384 #15714518 #15878741 #16126063
NDUFA12L 252010 Neurologic-manifestations neurologic #16200211
NDUFS1 252010 Neurologic-manifestations neurologic #11349233 #15576045 #15824269
NDUFS2 252010 Neurologic-manifestations neurologic #11220739
NDUFS3 252010 Neurologic-manifestations neurologic #14729820
NDUFS4 252010 Neurologic-manifestations neurologic #9463323 #10944442 #11181577 #12616398 #14765537
NDUFS6 252010 Neurologic-manifestations neurologic #15372108
NDUFS7 252010 Neurologic-manifestations neurologic #1770777 #10360771
NDUFS8 252010 Neurologic-manifestations neurologic #9837812 #15159508 #15981016 #16142472
NDUFV1 252010 Neurologic-manifestations neurologic #10080174 #11349233 #15981016
NDUFV2 252010 Neurologic-manifestations neurologic #12754703
OAT 258870 Neurologic-manifestations neurologic #711502 #4088625 #6786998 #8295414 #8701494 #8982944 #10354199 #10430418 #15159649 #16151897
OGDH 203740 Neurologic-manifestations neurologic #1640293 #7075624
OPA1 125250 Neurologic-manifestations neurologic #4058877 #6493699 #12566046 #15531309 #16158427 #16240368
OPA3 165300 Neurologic-manifestations neurologic #15342707
OPA3 258501 Neurologic-manifestations neurologic #7510656 #9097959 #11668429 #12126933 #15902555
OTC 311250 Neurologic-manifestations neurologic #429491 #2347583 #3508674 #3945292 #8008687 #8441099 #8732901 #8829665 #10064660 #10885542 #11148526 #11260212 #11793468 #12083811 #12403252 #12647200 #12788037 #15174800 #15243986 #15578616
OXCT1 245050 Neurologic-manifestations neurologic #7474899 #8803771 #9392403 #9521962 #10964512 #11757586 #15496607 #15669687
PANK2 234200 Neurologic-manifestations neurologic #7503394 #12510040 #12532925 #12697433 #12811783 #14639680 #15465096 #15747360 #15812126 #15911822 #15944911 #16023068 #16149094 #16240131 #16437574 #16450344
PANK2 607236 Neurologic-manifestations neurologic #1734303 #7898702 #12058097 #14638969
PARK7 105500 Neurologic-manifestations neurologic #16240358
PARK7 606324 Neurologic-manifestations neurologic #11462174 #11835383 #12446870 #12953260 #15365989 #15565491
PC 266150 Neurologic-manifestations neurologic #6422150 #6424438 #7503391 #7720232 #7822739 #9585002 #9585612 #10323732 #15781190 #16278852 #16325442
PCCA 606054 Neurologic-manifestations neurologic #7494403 #7957390 #10502773 #10780784 #12559849 #15164333 #15464417
PCCB 606054 Neurologic-manifestations neurologic #6820422 #7957390 #9461363 #9683601 #10488817 #10502773 #10780784 #10910839 #12409268 #12559849 #15464417
PDHA1 308930 Neurologic-manifestations neurologic #1641082 #8498846 #8982956 #9187674 #9266390
PDHA1 312170 Neurologic-manifestations neurologic #1338114 #8504306 #9187674 #9686362 #10486093 #10679936 #11870584 #12163191 #12379317 #14635113 #15384102 #15473177 #15558317 #16256390 #16412675 #16552546
PDHB 179060 Neurologic-manifestations neurologic #15138885
PDHX 245349 Neurologic-manifestations neurologic #8229524 #8584393 #9399911 #9501264 #11935326 #12557299 #14518830 #15303005 #16566017
PEO1 271245 Neurologic-manifestations neurologic #8133312 #8159181 #8552218 #9027505 #9879682 #16135556
PEO1 607459 Neurologic-manifestations neurologic #15668446
PEO1 609286 Neurologic-manifestations neurologic #1634620 #10522883 #12163192 #15258213
PINK1 605909 Neurologic-manifestations neurologic #11254447 #15349860 #15349870 #15349871 #15505170 #15505171 #15596610 #15955953 #15955954 #15970950 #16009891 #16257123 #16401616 #16482571 #16547921
POLG 157640 Neurologic-manifestations neurologic #11431686 #12975295 #15351195 #15534189
POLG 203700 Neurologic-manifestations neurologic #15689359 #16177225 #16621917
POLG 258450 Neurologic-manifestations neurologic #12825077 #12975295 #14694057 #15351195 #15477547 #16401742 #16621917 #16638794 #16715201
POLG 607459 Neurologic-manifestations neurologic #12565911 #15824347
POLG2 157640 Neurologic-manifestations neurologic #16685652
PPOX 176200 Neurologic-manifestations neurologic #2317449 #8673113 #9540991 #9738863 #9763307 #11286631 #12357337 #12859407 #15643299
PRODH 239500 Neurologic-manifestations neurologic #12525555
PUS1 600462 Neurologic-manifestations neurologic #7726239 #14981724 #15971356
RMRP 607095 Neurologic-manifestations neurologic #8723091 #11370632 #16252239
SCO1 220110 Neurologic-manifestations neurologic #11013136
SCO2 604377 Neurologic-manifestations neurologic #10545952 #10749987 #10805329 #11673586 #12020273 #14994243 #15210538 #15499950 #16326995 #16765077
SDHA 252011 Neurologic-manifestations neurologic #10746566 #10976639 #12794685 #16361598
SDHB 115310 Neurologic-manifestations neurologic #16304664 #16405730
SDHC 605373 Neurologic-manifestations neurologic #15342702
SDHD 168000 Neurologic-manifestations neurologic #11343322 #11391796 #11526495 #12114404 #12218630 #12509798 #16317055
SLC19A2 249270 Neurologic-manifestations neurologic #5767338 #6472386 #9399900 #10391221 #10874303 #10978358 #11380424 #14627317 #14994241 #16373304
SLC25A13 603471 Neurologic-manifestations neurologic #10369257 #11153906 #11432966 #12132524 #12512993 #12602510 #14680984 #15050970 #15805705 #16278034
SLC25A13 605814 Neurologic-manifestations neurologic #12424587
SLC25A15 238970 Neurologic-manifestations neurologic #1432421 #9329423 #10369256 #10805333 #11355015 #11552031 #11668643 #11814739 #16376511
SLC25A16 275000 Neurologic-manifestations neurologic #2575220
SLC25A19 607196 Neurologic-manifestations neurologic #12185364 #12376931
SLC25A20 212138 Neurologic-manifestations neurologic #1598097 #9399886 #9686371 #10384385 #10408757 #10876004 #11350184 #12801121 #15159657 #15365988
SLC25A22 609304 Neurologic-manifestations neurologic #15592994
SLC25A4 609283 Neurologic-manifestations neurologic #10364542 #10926541 #12112115 #12565915 #15792871 #16155110
SOD1 105400 Neurologic-manifestations neurologic #7624031 #7647793 #8907321 #9444365 #9455977 #9455983 #10430435 #10732812 #10751275 #10809943 #12480087 #14517684 #14759637 #15235802 #15851752 #16036438 #16423367
SPAST 182601 Neurologic-manifestations neurologic #8931574 #10610178 #10699187 #10980739 #11015453 #11134375 #11266693 #11309678 #11723204 #11843700 #12124993 #12163196 #12202986 #12552568 #15197701 #15210521 #15326248 #15667412
SPG7 607259 Neurologic-manifestations neurologic #9634528 #9635427 #11222789 #14623864 #14985266 #16534102
STAR 201710 Neurologic-manifestations neurologic #9141542 #9829224 #10323391 #15546900 #15985476 #16118340
SUCLA2 609560 Neurologic-manifestations neurologic #15877282
SUOX 272300 Neurologic-manifestations neurologic #9600976 #10519592 #11825068 #12001203 #12368985 #15952210 #16140720
SURF1 220110 Neurologic-manifestations neurologic #9837813 #10647889 #10746561 #11409433 #11955926 #14557577 #15214016 #16222681 #16225813 #16326995
TAT 276600 Neurologic-manifestations neurologic #1357662 #2456982 #9544843 #11589874 #11924112 #12548382 #16318910 #16574453
TAZ 300069 Neurologic-manifestations neurologic #7616547 #9382096
TAZ 300183 Neurologic-manifestations neurologic #9332651
TAZ 302060 Neurologic-manifestations neurologic #8630491 #8739954 #10484795 #14654353 #15098233
TIMM8A 304700 Neurologic-manifestations neurologic #7643352 #8841189 #10878669 #11405816 #11449109 #11601506 #11803487 #12805099 #13771732 #15037720 #15710860 #16411215
TIMM8A 311150 Neurologic-manifestations neurologic #3425626 #7195649 #11803487
TK2 609560 Neurologic-manifestations neurologic #1734306 #2538042 #11687801 #12269728 #12391347 #12655576 #12682338 #12873860 #15639197 #15907288 #16504786
TP53 202300 Neurologic-manifestations neurologic #11481490 #11600572
WFS1 222300 Neurologic-manifestations neurologic #9817917 #10521293 #11260218 #11709538 #12707373 #12754709 #15070927 #15151504 #15277431 #15605410 #16005363 #16151413 #16442662 #16648378
WFS1 600965 Neurologic-manifestations neurologic #11709537 #11709538 #12073007 #12181639

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