Mitochondria Phenome Knowledgebase

Phenotypic Feature Metabolic-diseases finds 143 Gene-Feature associations that are associated with 143 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 238700 Metabolic-diseases metabolic #5796356 #6015890 #10775527
AASS 268700 Metabolic-diseases metabolic #5018656 #5690339
ABAT 137150 Metabolic-diseases metabolic #6148708 #10407778
ABCB7 301310 Metabolic-diseases metabolic #4045952 #11050011
ABCD1 300100 Metabolic-diseases metabolic #7849723 #9702690 #10369742 #10426149 #10980309 #11438993 #11739809 #11810273 #12210797 #14586615 #15564782 #16672758
ACADL 201460 Metabolic-diseases metabolic #1945557 #2000272 #4022672 #8739959
ACADM 201450 Metabolic-diseases metabolic #2246856 #2279505 #2380628 #7876853 #7929823 #9158144 #9350306 #11346377 #11349232 #11409868 #11486912 #11524729 #12897989 #15858970
ACADS 201470 Metabolic-diseases metabolic #2808706 #3335634 #3571488 #7776094 #9499414 #9578969 #9932958 #11134486 #11524729 #12061367 #12872838 #14595061 #15534767
ACADSB 610006 Metabolic-diseases metabolic #10832746 #11013134 #12837870 #15615815 #16317551
ACADVL 201475 Metabolic-diseases metabolic #7479827 #7494405 #9498103 #9546340 #9877038 #10910451 #11158518 #11433098 #11524729 #16488171
ACAT1 203750 Metabolic-diseases metabolic #1346617 #1349518 #7173255 #8103405 #8930414 #9700610 #10604145 #11161836 #11914035 #12754704 #15877211
ACSL4 300387 Metabolic-diseases metabolic #12525535
AGXT 259900 Metabolic-diseases metabolic #2297338 #3974685 #5572669 #6770732 #6829606 #9192270 #9831280 #10586179 #11562405 #11682674 #12768081 #14657686 #15253729 #15327387 #15356974 #15365967 #15580002 #15603729
ALAS2 301300 Metabolic-diseases metabolic #1570328 #7560104 #7949148 #8107717 #10029606 #10577279 #11110715 #12031592 #12393718 #12531813 #12663458 #15477213 #16446107 #16540354
ALDH18A1 138250 Metabolic-diseases metabolic #11092761 #15517380
ALDH4A1 239510 Metabolic-diseases metabolic #837521 #956388 #2383933 #2624476 #4825691 #9700195 #15214748
ALDH5A1 271980 Metabolic-diseases metabolic #7726383 #8803774 #9093300 #9266358 #9683595 #10234622 #11901270 #12743223 #14512218 #15037717 #15059623 #15287248
ALDH6A1 603178 Metabolic-diseases metabolic #3939535 #7609453 #9787093 #10947204
AMACR 604489 Metabolic-diseases metabolic #10655068 #11861706 #15249642
AMT 605899 Metabolic-diseases metabolic #8005589 #9621520 #11139253 #12948742 #16450403
ATP7B 277900 Metabolic-diseases metabolic #3595645 #6888480 #9160075 #9706533 #10745386 #10864623 #11060541 #11454376 #12211729 #15274886 #15368714 #15909172 #16381639 #16416207
ATPAF2 604273 Metabolic-diseases metabolic #14757859
AUH 250950 Metabolic-diseases metabolic #3082934 #6181239 #9762598 #10896289 #12434311 #12655555 #15033206
BCKDHA 248600 Metabolic-diseases metabolic #1885764 #2060625 #2703538 #7707687 #7883996 #8161368 #10694918 #11825067 #12042535 #12118532 #14517957 #14567968 #14742428 #16601891 #16786533
BCKDHB 248600 Metabolic-diseases metabolic #2022752 #7707687 #8161368 #8312380 #11448970 #11509994 #14517957 #14567968 #14742428 #16786533
BCS1L 124000 Metabolic-diseases metabolic #11528392 #12910490
BCS1L 603358 Metabolic-diseases metabolic #7577396 #9482441 #12027811 #12215968
CLN3 204200 Metabolic-diseases metabolic #12374586
COX10 220110 Metabolic-diseases metabolic #2834526 #10767350 #12928484 #15455402
COX15 220110 Metabolic-diseases metabolic #12474143 #15235026 #15863660
CPOX 121300 Metabolic-diseases metabolic #6886003 #7616659 #9048920 #9454777 #9843038 #9888388 #11074238 #11202054 #11309681 #11739202 #11804210 #12181641 #12227458 #15896662 #16159891
CPS1 237300 Metabolic-diseases metabolic #6465866 #8273985 #8486760 #9309714 #9711878 #11301219 #11474210 #11536261 #12655559 #12955727 #15617192
CPT1A 255120 Metabolic-diseases metabolic #9691089 #10625081 #11286380 #11286383 #11350182 #11350183 #11441142 #12111367 #12189492 #15669684 #16146704
CPT2 255110 Metabolic-diseases metabolic #2748260 #8201482 #11999976 #12752755 #15642848
CPT2 600649 Metabolic-diseases metabolic #1528846 #1999498 #8682496 #9600456 #11389301 #11477613 #12410208
CYBA 233690 Metabolic-diseases metabolic #9445163 #16157492
CYP11A1 201710 Metabolic-diseases metabolic #11502818 #12161514 #15507506 #16705068
CYP11B1 103900 Metabolic-diseases metabolic #1731223 #7550315 #7593610 #12107222
CYP11B1 202010 Metabolic-diseases metabolic #2022736 #7488170 #8506298 #9435454 #11095433 #15755848
CYP11B2 103900 Metabolic-diseases metabolic #1731223 #7550315 #7593610 #8954040 #12107222
CYP11B2 124080 Metabolic-diseases metabolic #1594605 #2044581 #9177280 #9360501 #9625333 #9814506 #11238478 #12788848
CYP27A1 213700 Metabolic-diseases metabolic #1763899 #2019602 #3344851 #7915755 #8514861 #9186905 #10430841 #10519880 #10775536 #11903362 #12000359 #12555943 #14572142 #15147532 #15795599 #16157755 #16278884
CYP27B1 264700 Metabolic-diseases metabolic #9415400 #9486994 #9837822 #12050193
DBT 248600 Metabolic-diseases metabolic #1847055 #2010537 #9239422 #9621512 #12118532 #14517957 #14567968 #14741190 #14742428 #16786533
DGUOK 251880 Metabolic-diseases metabolic #11687800 #12205643 #12210798 #15639197 #15883261 #15887277 #15964659 #16263314
DLAT 109720 Metabolic-diseases metabolic #7956610 #8900092 #16177252
DLAT 245348 Metabolic-diseases metabolic #2112155 #16049940
DLD 248600 Metabolic-diseases metabolic #413089 #3769994 #6418873 #6897145 #8506365 #8652022 #8968745 #9298831 #9540846 #9934985 #10448086 #11687750 #12925875 #14765544 #15712224
DLST 203740 Metabolic-diseases metabolic #1640293 #7075624 #8295396 #10774994
DMGDH 605850 Metabolic-diseases metabolic #10102904 #11231903
DMPK 160900 Metabolic-diseases metabolic #8293615 #9402536 #9521960 #10733240 #11455309 #11549662 #11874404 #11874420 #11888847 #12240714 #12601109 #12832322 #14726854 #15770660
DNAJC19 608977 Metabolic-diseases metabolic #16055927
ECGF1 603041 Metabolic-diseases metabolic #14720311 #14757860 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527
ETFA 231680 Metabolic-diseases metabolic #1430199 #7912128 #12486872 #12815589 #16510302
ETFB 231680 Metabolic-diseases metabolic #7912128 #9350306 #12706375 #12815589 #16510302
ETFDH 231680 Metabolic-diseases metabolic #7912128 #10356148 #12359134 #12815589 #15662686 #15669683
ETHE1 602473 Metabolic-diseases metabolic #1683940 #7726376 #9475600 #12382164 #14732903
FECH 177000 Metabolic-diseases metabolic #1729699 #1755842 #7910885 #8244265 #8500787 #8873010 #9585598 #9649563 #10433022 #10832676 #10942404 #11886534 #16150949 #16315313
FH 605839 Metabolic-diseases metabolic #15741255
FH 606812 Metabolic-diseases metabolic #1432428 #2515378 #8200987 #15221078 #16151915
FXN 229300 Metabolic-diseases metabolic #4673109 #9326946 #10533031 #10607838 #10767311 #11351269 #12878293 #16239244
GATM 602360 Metabolic-diseases metabolic #10762163 #11555793 #12324495 #12468279
GCDH 231670 Metabolic-diseases metabolic #1137568 #7564239 #7795610 #9856558 #10407775 #10699052 #10960496 #11020111 #11058907 #11174631 #11825066 #12473778 #12888985 #15985591 #16377226
GCK 125851 Metabolic-diseases metabolic #1502186 #1570017 #8376578 #8495817 #9049484 #11508276 #11575290 #12050210 #14517946 #16444761
GCK 125853 Metabolic-diseases metabolic #1360036 #1397713
GCK 602485 Metabolic-diseases metabolic #9435328 #11916951 #15277402
GCK 606176 Metabolic-diseases metabolic #11372010 #14517946 #14578306 #15644838
GCSH 605899 Metabolic-diseases metabolic #1671321
GFM1 609060 Metabolic-diseases metabolic #15537906
GK 307030 Metabolic-diseases metabolic #9719371 #10736265 #10851254 #11032329 #11479736 #12636049 #15026783 #15303806 #16025401
GLDC 605899 Metabolic-diseases metabolic #1634607 #10798358 #15236413 #15824356 #15851735 #15864413 #16450403
GLUD1 606762 Metabolic-diseases metabolic #8769351 #9108870 #9571255 #10636977 #10871207 #11214910 #11297618 #11518822 #14967154 #15517495 #16151898
GPD2 125853 Metabolic-diseases metabolic #9070847 #10491312 #11822825
HADH 231530 Metabolic-diseases metabolic #10347277 #10931422 #11489939 #14641012 #14693719 #16176262 #16725361
HADHA 609015 Metabolic-diseases metabolic #7738175 #8865274 #9739053 #10352164 #10400133 #11855930 #12838198 #12971428 #14630990 #15902556
HADHA 609016 Metabolic-diseases metabolic #7846063 #8094173 #8736409 #8931405 #9003853 #9403664 #10352164 #10518281 #11855930 #12162610 #12413376 #14605499
HADHB 609015 Metabolic-diseases metabolic #9305349 #11855930 #12548384 #12754706 #12838198 #15243991 #15617873 #15902556 #16423905
HD 143100 Metabolic-diseases metabolic #2456053 #2940474 #2945510 #6217782 #9443350 #15042332 #15526960
HK1 235700 Metabolic-diseases metabolic #4027385 #6848140 #12211198 #12393545
HLCS 253270 Metabolic-diseases metabolic #2515377 #8319716 #8541348 #9686819 #10190325 #10234606 #10653324 #10770035 #11185745 #11735028 #12124727 #12633764 #12855220 #16134170
HMGCL 246450 Metabolic-diseases metabolic #1886403 #3128690 #8440722 #9439591 #9463337 #11129331 #11461194 #15308132
HMGCS2 605911 Metabolic-diseases metabolic #9337379 #9727719 #11228257 #11479731 #12072887 #12647205
HSD17B10 300438 Metabolic-diseases metabolic #11102558 #12112118 #12555940 #12696021 #14729408 #15059617 #16148061
HSD3B2 201810 Metabolic-diseases metabolic #295036 #1363812 #8284113 #10770215 #10843183 #12050213 #12050224 #15585552
IVD 243500 Metabolic-diseases metabolic #2124776 #8765634 #8830183 #9673537 #10191353 #10677295 #12911192 #15486829 #15624372 #16040844 #16602101
LRPPRC 220111 Metabolic-diseases metabolic #8392290 #8392291 #11156535 #16143014
LRRK2 607060 Metabolic-diseases metabolic #7898705 #15732106 #15732108
MCCC1 210200 Metabolic-diseases metabolic #2738779 #10485305 #11170888 #11181649 #11406611 #11893004 #15359379 #15868465 #16010683
MCCC2 210210 Metabolic-diseases metabolic #1293382 #7128647 #8831079 #9537490 #9544913 #11170888 #11181649 #11406611 #15877210 #16010683
MLYCD 248360 Metabolic-diseases metabolic #3709568 #6145813 #7609455 #8259873 #9177981 #9869665 #10417274 #11461195 #11550227 #12955715 #16275149
MMAA 251100 Metabolic-diseases metabolic #6132336 #12438653 #15308131 #15523652
MMAB 251110 Metabolic-diseases metabolic #6132336 #7213387 #12471062 #15781192 #16410054
MPV17 251880 Metabolic-diseases metabolic #16582910
MPV17 256810 Metabolic-diseases metabolic #2300261 #10518083 #11431741 #16909392
MRPS16 609204 Metabolic-diseases metabolic #15505824
MTRR 236270 Metabolic-diseases metabolic #2860337 #6700644 #9501215 #10484769 #12555939 #12971424
MUT 251000 Metabolic-diseases metabolic #1346616 #1977311 #9554742 #10893496 #10923046 #11161845 #11350191 #11528502 #12118529 #12402345 #12948746 #15643616 #15781199 #16186538 #16281286 #16435223 #16451139
NAGS 237310 Metabolic-diseases metabolic #7623444 #9870213 #9877039 #12447942 #12594532 #12754705 #15480384 #15714518 #15878741 #16126063
NDUFA12L 252010 Metabolic-diseases metabolic #16200211
NDUFS1 252010 Metabolic-diseases metabolic #11349233 #15576045 #15824269
NDUFS2 252010 Metabolic-diseases metabolic #11220739 #15981016
NDUFS3 252010 Metabolic-diseases metabolic #14729820
NDUFS4 252010 Metabolic-diseases metabolic #10944442 #11181577 #14765537
NDUFS6 252010 Metabolic-diseases metabolic #15372108
NDUFS7 252010 Metabolic-diseases metabolic #15576045
NDUFS8 252010 Metabolic-diseases metabolic #9837812 #15159508 #15981016
NDUFV1 252010 Metabolic-diseases metabolic #10080174 #11349233 #15576045 #15981016
NDUFV2 252010 Metabolic-diseases metabolic #12754703
OAT 258870 Metabolic-diseases metabolic #711502 #2220818 #2793865 #4068589 #4088625 #6786998 #7887415 #7958031 #8295414 #8701494 #8982944 #9893857 #10354199 #10430418 #10604138 #11297489 #11831916 #12221166 #15159649 #15750329 #16151897
OGDH 203740 Metabolic-diseases metabolic #1640293 #7075624 #10774994
OPA3 258501 Metabolic-diseases metabolic #7510656 #9097959 #11668429 #12126933 #15342707 #15902555
OTC 311250 Metabolic-diseases metabolic #429491 #2347583 #3508674 #8008687 #8441099 #8732901 #8829665 #9056557 #10064660 #11148526 #11260212 #11793468 #11891099 #12083811 #12647200 #12788037 #15174800 #15243986 #15578616
OXCT1 245050 Metabolic-diseases metabolic #7474899 #8803771 #9392403 #9521962 #9671268 #10964512 #11757586 #15496607 #15669687
PANK2 234200 Metabolic-diseases metabolic #12510040 #12697433 #12811783 #15465096 #16240131 #16437574 #16450344
PANK2 607236 Metabolic-diseases metabolic #1734303 #7898702 #12058097 #14638969 #16240131
PARK7 606324 Metabolic-diseases metabolic #15365989 #15565491
PARL 125853 Metabolic-diseases metabolic #15729572
PC 266150 Metabolic-diseases metabolic #826106 #6422150 #6422151 #6424438 #7503391 #7720232 #9585002 #9585612 #10323732 #12112657 #15781190 #16278852 #16325442
PCCA 606054 Metabolic-diseases metabolic #2037281 #6790853 #7494403 #7957390 #9385377 #9461363 #9683601 #9887338 #10101253 #10502773 #10767396 #10780784 #12559849 #13693094 #15164333 #15464417 #15614906
PCCB 606054 Metabolic-diseases metabolic #2037281 #6820422 #7957390 #9461363 #9683601 #10488817 #10502773 #10767396 #10780784 #10820128 #10910839 #12409268 #12559849 #15464417 #15614906
PCK2 261650 Metabolic-diseases metabolic #2044592 #3089795 #9657976
PDHA1 308930 Metabolic-diseases metabolic #1641082 #8498846 #8982956 #9187674 #9266390
PDHA1 312170 Metabolic-diseases metabolic #1338114 #3137520 #7573035 #8504306 #8504309 #9187674 #9686362 #10486093 #11870584 #12163191 #12379317 #14635113 #15384102 #15473177 #15558317 #16256390 #16412675 #16552546
PDHB 179060 Metabolic-diseases metabolic #15138885
PDHX 245349 Metabolic-diseases metabolic #8584393 #9399911 #9467010 #9501264 #11935326 #14518830 #15303005 #16566017
PEO1 607459 Metabolic-diseases metabolic #15668446
PEO1 609286 Metabolic-diseases metabolic #15258213
PINK1 605909 Metabolic-diseases metabolic #15955954 #16547921
POLG 157640 Metabolic-diseases metabolic #2067633 #12975295 #15534189
POLG 203700 Metabolic-diseases metabolic #15689359 #15929042 #16177225 #16545482
POLG 258450 Metabolic-diseases metabolic #14694057 #15477547 #16621917 #16638794
POLG 607459 Metabolic-diseases metabolic #12565911 #15824347
PPOX 176200 Metabolic-diseases metabolic #2317449 #3319294 #7586575 #8852667 #9003509 #9540990 #9540991 #9738863 #9763307 #10870850 #11286631 #11298551 #11804210 #12357337 #12859407 #15327556 #15643299 #16433813
PRODH 239500 Metabolic-diseases metabolic #12217952 #12525555 #15494707 #15662599
PUS1 600462 Metabolic-diseases metabolic #7726239 #14981724 #15971356
RMRP 250250 Metabolic-diseases metabolic #14569125
SCO1 220110 Metabolic-diseases metabolic #11013136
SCO2 604377 Metabolic-diseases metabolic #10545952 #10749987 #10805329 #11673586 #12020273 #14994243 #15210538 #15499950 #16326995 #16765077
SDHA 252011 Metabolic-diseases metabolic #10746566 #12112045 #12794685 #16361598
SDHB 115310 Metabolic-diseases metabolic #16472267
SLC19A2 249270 Metabolic-diseases metabolic #5767338 #6472386 #9399900 #10391221 #10874303 #10978358 #11380424 #14627317 #14994241 #16373304
SLC25A13 603471 Metabolic-diseases metabolic #10369257 #11153906 #11432966 #12132524 #12512993 #12602510 #14680984 #15050970 #15805705 #16278034
SLC25A13 605814 Metabolic-diseases metabolic #11281457 #11343052 #11343053 #11793471 #11999983 #12111366 #12424587 #14680984 #15542392
SLC25A15 238970 Metabolic-diseases metabolic #1432421 #9329423 #10369256 #10805333 #11355015 #11552031 #11668643 #11814739 #14759633 #16376511
SLC25A19 607196 Metabolic-diseases metabolic #12185364 #12376931
SLC25A20 212138 Metabolic-diseases metabolic #1598097 #9399886 #9544911 #9686371 #10384384 #10384385 #10408757 #10876004 #11350184 #12801121 #12890396 #15057979 #15159657 #15365988
SLC25A4 609283 Metabolic-diseases metabolic #10364542 #11756613 #12565915 #16155110
STAR 201710 Metabolic-diseases metabolic #8634702 #9141542 #9215316 #9829224 #10323391 #10566637 #11061515 #14764819 #15546900 #15666846 #15985476 #16118340
SUCLA2 609560 Metabolic-diseases metabolic #15877282
SUOX 272300 Metabolic-diseases metabolic #9050047 #9600976 #10519592 #11825068 #12112661 #12368985 #16140720
SURF1 220110 Metabolic-diseases metabolic #9837813 #10647889 #10746561 #11409433 #11955926 #14557577 #15214016 #16222681 #16225813 #16326995
TAT 276600 Metabolic-diseases metabolic #1357662 #2456982 #9544843 #11589874 #11924112 #12548382 #16318910 #16574453
TAZ 300183 Metabolic-diseases metabolic #11238270
TAZ 302060 Metabolic-diseases metabolic #8630491 #8739954 #9345098 #9382096 #10484795 #11238270 #12032589 #12529714 #14654353 #15098233 #15124852 #16235007
TIMM8A 304700 Metabolic-diseases metabolic #12805099
TIMM8A 311150 Metabolic-diseases metabolic #11803487
TK2 609560 Metabolic-diseases metabolic #2538042 #11687801 #12269728 #12391347 #12655576 #15907288 #16504786
TP53 202300 Metabolic-diseases metabolic #11481490 #11600572
UCP1 125853 Metabolic-diseases metabolic #11317671 #16338218
UCP1 601665 Metabolic-diseases metabolic #8968850 #9555947 #11239487 #12119988
UCP2 125853 Metabolic-diseases metabolic #15562023 #15951317
UCP2 601665 Metabolic-diseases metabolic #10837279 #11381268 #16562813
UCP3 125853 Metabolic-diseases metabolic #9769326
UCP3 601665 Metabolic-diseases metabolic #9769326 #11683368
UQCRB 124000 Metabolic-diseases metabolic #12709789
UROS 263700 Metabolic-diseases metabolic #9092747 #9188670 #9834209 #10583066 #11121156 #11254675 #12060112 #12060141 #12533808 #15065102 #15304101 #16365260
WFS1 222300 Metabolic-diseases metabolic #7490992 #9817917 #10521293 #11260218 #11709538 #12707373 #12754709 #15070927 #15151504 #15277431 #15605410 #16005363 #16151413 #16442662 #16648378

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