Mitochondria Phenome Knowledgebase

Phenotypic Feature Neuromuscular-manifestations finds 129 Gene-Feature associations that are associated with 129 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 238700 Neuromuscular-manifestations neurologic #6015890
AASS 268700 Neuromuscular-manifestations neurologic #5018656
ABAT 137150 Neuromuscular-manifestations neurologic #6148708 #9746906 #10407778
ABCB7 301310 Neuromuscular-manifestations neurologic #11118249
ABCD1 300100 Neuromuscular-manifestations neurologic #7849723 #10426149 #10980309 #11739809 #11810273 #15564782 #16672758
ACADL 201460 Neuromuscular-manifestations neurologic #1945557 #2000272 #4022672 #8739959
ACADM 201450 Neuromuscular-manifestations neurologic #2279505 #7876853 #9158144 #11263545 #11524729 #15858970
ACADS 201470 Neuromuscular-manifestations neurologic #2808706 #3335634 #3571488 #7776094 #9578969 #9932958 #11134486 #11524729 #14595061 #15534767
ACADSB 610006 Neuromuscular-manifestations neurologic #10832746 #11013134 #12837870 #16317551
ACADVL 201475 Neuromuscular-manifestations neurologic #7479827 #9546340 #9709714 #9877038 #10910451 #11158518 #11433098 #11524729 #16443431
ACAT1 203750 Neuromuscular-manifestations neurologic #1349518 #7173255 #11161836
ACSL4 300387 Neuromuscular-manifestations neurologic #11889465
ALDH18A1 138250 Neuromuscular-manifestations neurologic #11092761 #15517380
ALDH5A1 271980 Neuromuscular-manifestations neurologic #9093300 #9266358 #9683595 #10234622 #11901270 #12743223 #15059623 #15287248
AMACR 604489 Neuromuscular-manifestations neurologic #10655068
AMT 605899 Neuromuscular-manifestations neurologic #8005589 #9621520 #12948742 #15236413 #16450403
ATP7B 277900 Neuromuscular-manifestations neurologic #9160075 #11086396 #14639035 #15557537 #15636319 #15909172
ATPAF2 604273 Neuromuscular-manifestations neurologic #14757859
AUH 250950 Neuromuscular-manifestations neurologic #9762598 #10896289
BCKDHA 248600 Neuromuscular-manifestations neurologic #7883996 #12042535 #16601891
BCKDHB 248600 Neuromuscular-manifestations neurologic #2022752
BCS1L 124000 Neuromuscular-manifestations neurologic #11528392 #12910490
BCS1L 603358 Neuromuscular-manifestations neurologic #7577396 #12215968
CLN3 204200 Neuromuscular-manifestations neurologic #7553855 #10720276 #15032383
COX10 220110 Neuromuscular-manifestations neurologic #2834526 #10767350 #12928484 #15455402
COX15 220110 Neuromuscular-manifestations neurologic #12474143 #15235026 #15863660
CPOX 121300 Neuromuscular-manifestations neurologic #11074238 #11202054 #11739202 #15896662
CPS1 237300 Neuromuscular-manifestations neurologic #11301219 #12955727 #15617192
CPT1A 255120 Neuromuscular-manifestations neurologic #9691089 #11441142
CPT2 255110 Neuromuscular-manifestations neurologic #8201482 #8358442 #8786066 #8815169 #9600456 #10090476 #10398215 #10862092 #11999976 #12410208 #12752755 #15642848 #15776096
CPT2 600649 Neuromuscular-manifestations neurologic #11389301 #11477613 #12560872
CYB5R3 250800 Neuromuscular-manifestations neurologic #7668255 #8874222 #9886302 #10874300
CYP11B2 124080 Neuromuscular-manifestations neurologic #11238478 #12788848
CYP27A1 213700 Neuromuscular-manifestations neurologic #1763899 #3344851 #10775536 #11464194 #16157755
CYP27B1 264700 Neuromuscular-manifestations neurologic #9415400 #9486994 #9837822 #10566658 #12050193
DBT 248600 Neuromuscular-manifestations neurologic #9621512 #14742428
DGUOK 251880 Neuromuscular-manifestations neurologic #12205643 #12210798 #15639197 #15883261 #15887277 #15964659 #16263314
DLAT 245348 Neuromuscular-manifestations neurologic #16049940
DLD 248600 Neuromuscular-manifestations neurologic #3769994 #6897145 #8506365 #8652022 #8968745 #9934985 #10448086 #11687750 #12925875 #14765544 #15712224
DLST 203740 Neuromuscular-manifestations neurologic #1640293 #7075624 #8295396
DMPK 160900 Neuromuscular-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
ECGF1 603041 Neuromuscular-manifestations neurologic #9683610 #12177387 #14757860 #16178026 #16198108 #16294144 #16498612 #16530527
ETFA 231680 Neuromuscular-manifestations neurologic #12486872 #12815589 #16510302
ETFB 231680 Neuromuscular-manifestations neurologic #12706375 #12815589
ETFDH 231680 Neuromuscular-manifestations neurologic #10356148 #12815589 #15662686 #15669683
ETHE1 602473 Neuromuscular-manifestations neurologic #1683940 #9475600 #12382164
FH 606812 Neuromuscular-manifestations neurologic #1432428 #2515378 #8200987 #9635293 #15221078 #16151915 #16156009
FXN 229300 Neuromuscular-manifestations neurologic #4673109 #10767311 #11425956 #11809170 #12112211 #12480086 #12745158 #12878293 #15061120 #15376485 #16344344
GATM 602360 Neuromuscular-manifestations neurologic #12468279
GCDH 231670 Neuromuscular-manifestations neurologic #7564239 #9856558 #10407775 #10960496 #11174631 #11825066 #12888985 #16377226
GCSH 605899 Neuromuscular-manifestations neurologic #1671321
GDAP1 214400 Neuromuscular-manifestations neurologic #11743579 #11743580 #12499475 #12707075 #15377708 #15944907 #16343542
GDAP1 607706 Neuromuscular-manifestations neurologic #11743580 #12601710 #12821518 #15019704 #15805163
GDAP1 608340 Neuromuscular-manifestations neurologic #12566285
GFM1 609060 Neuromuscular-manifestations neurologic #15537906
GK 307030 Neuromuscular-manifestations neurologic #9719371 #11032329 #11479736 #15026783
GLDC 605899 Neuromuscular-manifestations neurologic #15236413 #15824356 #15851735 #15864413 #16450403
GLUD1 606762 Neuromuscular-manifestations neurologic #8769351 #9108870
HADH 231530 Neuromuscular-manifestations neurologic #10347277 #14693719
HADHA 609015 Neuromuscular-manifestations neurologic #2019931 #7738175 #7748366 #8865274 #9739053 #14630990 #15902556
HADHA 609016 Neuromuscular-manifestations neurologic #8094173 #8736409 #9003853 #9403664 #10352164 #12162610 #14605499
HADHB 609015 Neuromuscular-manifestations neurologic #12548384 #12754706 #15617873 #15902556 #16423905
HD 143100 Neuromuscular-manifestations neurologic #2945510 #7845404 #8474490 #9443350 #9771791 #10348461 #10644798 #11524486 #12075490 #12820545 #15254954 #15338298 #15526960
HLCS 253270 Neuromuscular-manifestations neurologic #2515377 #8541348 #9686819 #10190325 #12124727 #12633764 #12855220 #16134170
HMGCL 246450 Neuromuscular-manifestations neurologic #1886403 #9439591 #9463337 #11129331 #11461194
HSD17B10 300438 Neuromuscular-manifestations neurologic #11102558 #12112118 #12555940 #14729408 #15059617 #16148061
HSPD1 605280 Neuromuscular-manifestations neurologic #10677329 #11898127
HTRA2 168600 Neuromuscular-manifestations neurologic #15961413
KIF1B 118210 Neuromuscular-manifestations neurologic #9409358 #11389829
LRPPRC 220111 Neuromuscular-manifestations neurologic #8392290 #8392291 #11156535 #16143014
LRRK2 607060 Neuromuscular-manifestations neurologic #7898705 #11891824 #15541308 #15541309 #15680456 #15680457 #15726496 #15732106 #15732108 #15852371
MCCC1 210200 Neuromuscular-manifestations neurologic #11181649 #11893004
MCCC2 210210 Neuromuscular-manifestations neurologic #1293382 #9537490 #11181649 #15877210
MFN2 601152 Neuromuscular-manifestations neurologic #16437557
MFN2 609260 Neuromuscular-manifestations neurologic #8406488 #9409358 #10732809 #11148244 #12601114 #15064763 #15136675 #15549395 #16043786 #16087932 #16714318
MLYCD 248360 Neuromuscular-manifestations neurologic #7609455 #9869665 #11550227 #12955715 #16275149
MMAA 251100 Neuromuscular-manifestations neurologic #6132336 #15781192
MMAB 251110 Neuromuscular-manifestations neurologic #6132336 #16410054
MPV17 256810 Neuromuscular-manifestations neurologic #185990 #10518083 #11431741
MRPS16 609204 Neuromuscular-manifestations neurologic #15505824
MTRR 236270 Neuromuscular-manifestations neurologic #12555939 #15714522
MUT 251000 Neuromuscular-manifestations neurologic #10923046 #16186538 #16281286 #16451139
NAGS 237310 Neuromuscular-manifestations neurologic #7623444 #9877039 #12447942 #12594532 #12754705 #15878741 #16126063
NDUFA12L 252010 Neuromuscular-manifestations neurologic #16200211
NDUFS1 252010 Neuromuscular-manifestations neurologic #11349233 #15576045 #15824269
NDUFS2 252010 Neuromuscular-manifestations neurologic #11220739
NDUFS3 252010 Neuromuscular-manifestations neurologic #14729820
NDUFS4 252010 Neuromuscular-manifestations neurologic #9463323 #10944442 #11181577 #12616398 #14765537
NDUFS6 252010 Neuromuscular-manifestations neurologic #15372108
NDUFS7 252010 Neuromuscular-manifestations neurologic #1770777 #10360771
NDUFS8 252010 Neuromuscular-manifestations neurologic #9837812 #15981016
NDUFV1 252010 Neuromuscular-manifestations neurologic #10080174 #11349233 #15981016
NDUFV2 252010 Neuromuscular-manifestations neurologic #12754703
OAT 258870 Neuromuscular-manifestations neurologic #4088625 #6786998 #8982944 #10354199 #10430418
OGDH 203740 Neuromuscular-manifestations neurologic #1640293 #7075624
OPA3 165300 Neuromuscular-manifestations neurologic #15342707
OPA3 258501 Neuromuscular-manifestations neurologic #7510656 #9097959 #11668429 #12126933
OTC 311250 Neuromuscular-manifestations neurologic #429491 #10885542
OXCT1 245050 Neuromuscular-manifestations neurologic #7474899 #9392403
PANK2 234200 Neuromuscular-manifestations neurologic #7503394 #12510040 #12697433 #12811783 #14639680 #15465096 #15747360 #15812126 #15911822 #15944911 #16240131 #16437574
PANK2 607236 Neuromuscular-manifestations neurologic #1734303 #12058097 #14638969
PARK7 105500 Neuromuscular-manifestations neurologic #16240358
PARK7 606324 Neuromuscular-manifestations neurologic #11462174 #11835383 #12446870 #12953260 #15365989 #15565491
PC 266150 Neuromuscular-manifestations neurologic #7503391 #7822739 #9585002 #9585612 #15781190 #16278852 #16325442
PCCA 606054 Neuromuscular-manifestations neurologic #7957390 #10502773 #10780784 #12559849 #15464417
PCCB 606054 Neuromuscular-manifestations neurologic #7957390 #9461363 #10488817 #10502773 #10780784 #10910839 #12409268 #12559849 #15464417
PDHA1 308930 Neuromuscular-manifestations neurologic #1641082 #8498846 #8982956 #9187674 #9266390
PDHA1 312170 Neuromuscular-manifestations neurologic #1338114 #9187674 #9686362 #10486093 #12163191 #12379317 #14635113 #15473177 #15558317 #16256390 #16412675 #16552546
PDHB 179060 Neuromuscular-manifestations neurologic #15138885
PDHX 245349 Neuromuscular-manifestations neurologic #8584393 #12557299 #14518830 #15303005 #16566017
PEO1 271245 Neuromuscular-manifestations neurologic #8133312 #8159181 #8552218 #9879682 #16135556
PEO1 607459 Neuromuscular-manifestations neurologic #15668446
PEO1 609286 Neuromuscular-manifestations neurologic #1634620 #10522883 #12163192 #15258213
PINK1 605909 Neuromuscular-manifestations neurologic #11254447 #15349870 #15349871 #15505170 #15505171 #15596610 #15955953 #15970950 #16009891 #16482571 #16547921
POLG 157640 Neuromuscular-manifestations neurologic #11431686 #12975295 #15351195 #15534189
POLG 203700 Neuromuscular-manifestations neurologic #15689359
POLG 258450 Neuromuscular-manifestations neurologic #12825077 #15351195 #15477547 #16401742 #16638794 #16715201
POLG 607459 Neuromuscular-manifestations neurologic #12565911 #15824347
POLG2 157640 Neuromuscular-manifestations neurologic #16685652
PPOX 176200 Neuromuscular-manifestations neurologic #9738863 #11286631 #12357337 #12859407 #15643299
PUS1 600462 Neuromuscular-manifestations neurologic #7726239 #14981724
RMRP 607095 Neuromuscular-manifestations neurologic #11370632
SCO1 220110 Neuromuscular-manifestations neurologic #11013136
SCO2 604377 Neuromuscular-manifestations neurologic #10545952 #10749987 #10805329 #11673586 #12020273 #14994243 #15210538 #15499950 #16326995 #16765077
SDHA 252011 Neuromuscular-manifestations neurologic #10746566 #12794685 #16361598
SDHB 115310 Neuromuscular-manifestations neurologic #16405730
SLC19A2 249270 Neuromuscular-manifestations neurologic #14627317
SLC25A13 603471 Neuromuscular-manifestations neurologic #15805705
SLC25A15 238970 Neuromuscular-manifestations neurologic #9329423 #10369256 #10805333 #11355015 #11552031 #11668643 #11814739 #16376511
SLC25A16 275000 Neuromuscular-manifestations neurologic #2575220
SLC25A19 607196 Neuromuscular-manifestations neurologic #12185364 #12376931
SLC25A20 212138 Neuromuscular-manifestations neurologic #1598097 #9686371 #10384385 #10408757 #10876004 #11350184 #12801121 #15159657 #15365988
SLC25A22 609304 Neuromuscular-manifestations neurologic #15592994
SLC25A4 609283 Neuromuscular-manifestations neurologic #10364542 #10926541 #12112115 #12565915 #15792871 #16155110
SOD1 105400 Neuromuscular-manifestations neurologic #7624031 #7647793 #8907321 #9444365 #9455977 #9455983 #10430435 #10732812 #10751275 #10809943 #12480087 #14517684 #14759637 #15235802 #15851752 #16423367
SPAST 182601 Neuromuscular-manifestations neurologic #8931574 #10610178 #10699187 #10980739 #11015453 #11134375 #11266693 #11309678 #11723204 #11843700 #12124993 #12163196 #12202986 #12552568 #15197701 #15210521 #15326248 #15667412
SPG7 607259 Neuromuscular-manifestations neurologic #9634528 #9635427 #11222789 #14623864 #14985266 #16534102
STAR 201710 Neuromuscular-manifestations neurologic #9141542 #16118340
SUCLA2 609560 Neuromuscular-manifestations neurologic #15877282
SUOX 272300 Neuromuscular-manifestations neurologic #9600976 #10519592 #11825068 #12001203 #12368985 #15952210 #16140720
SURF1 220110 Neuromuscular-manifestations neurologic #9837813 #10746561 #11409433 #11955926 #14557577 #15214016 #16222681 #16225813 #16326995
TAZ 300183 Neuromuscular-manifestations neurologic #9332651
TAZ 302060 Neuromuscular-manifestations neurologic #8630491 #8739954 #10484795 #14654353 #15098233
TIMM8A 304700 Neuromuscular-manifestations neurologic #8841189 #10878669 #11803487 #12805099
TIMM8A 311150 Neuromuscular-manifestations neurologic #3425626 #7195649
TK2 609560 Neuromuscular-manifestations neurologic #2538042 #11687801 #12269728 #12391347 #12655576 #12682338 #12873860 #15639197 #15907288 #16504786
TP53 202300 Neuromuscular-manifestations neurologic #11481490 #11600572

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