Mitochondria Phenome Knowledgebase

Phenotypic Feature Brain-diseases finds 173 Gene-Feature associations that are associated with 136 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 238700 Brain-diseases neurologic #6015890
AASS 268700 Brain-diseases neurologic #5690339
ABAT 137150 Brain-diseases neurologic #6148708 #9746906 #10407778
ABCB7 301310 Brain-diseases neurologic #11050011 #11118249
ABCD1 300100 Brain-diseases neurologic #961799 #9702690 #10369742 #10426149 #10980309 #11204280 #11438993 #11810273 #12210797 #14586615 #15564782 #16130276 #16380594 #16672758
ACADM 201450 Brain-diseases neurologic #7876853 #9158144 #9350306 #11263545 #11349232 #11524729 #12897989
ACADM 201450 Metabolic-brain-diseases CSF protein elevated metabolic #2246856 #2279505 7876853 #7929823 #9158144 #9350306
ACADS 201470 Brain-diseases neurologic #3571488 #7776094 #9578969 #11134486 #15534767
ACADSB 610006 Brain-diseases neurologic #10832746 #16317551
ACADVL 201475 Brain-diseases neurologic #9709714 #16488171
ACADVL 201475 Metabolic-brain-diseases metabolic #7479827
ACAT1 203750 Brain-diseases neurologic #1349518 #11161836
ACAT1 203750 Metabolic-brain-diseases CSF protein level elevated metabolic 7173255
ACSL4 300387 Brain-diseases neurologic #11889465
ACSL4 300387 Metabolic-brain-diseases cognition related brain lipid metabolism disturbed; brain lipid metabolism abnormal metabolic 12525535
ACSL6 604443 Brain-diseases neurologic #16572202
AGXT 259900 Brain-diseases neurologic #10586179
ALDH18A1 138250 Brain-diseases neurologic #15517380
ALDH4A1 239510 Brain-diseases neurologic #956388 #2383933 #2624476 #4825691 #9700195 #15214748
ALDH5A1 271980 Brain-diseases neurologic #9093300 #9266358 #12743223 #14512218 #15059623 #15287248
ALDH5A1 271980 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; GABA levels abnormal; GHB levels abnormal; GABA accumulation; white matter abnormal; gray matter abnormal; cerebellar hypometabolism metabolic 12743223 15037717
AMACR 604489 Brain-diseases neurologic #10655068 #11861706 #15249642
AMT 605899 Brain-diseases neurologic #8005589 #9600239 #11139253 #12948742 #15236413 #16450403
ATP7B 277900 Brain-diseases neurologic 759736 #3052696 #6888480 #8585490 #9706533 #11060541 #11086396 #12211729 #12376745 #15146013 #15636319 #15909172
ATP7B 277900 Metabolic-brain-diseases PET findings; positron emission tomography; glucose metabolic rate reduced; hypometabolism; cerebellum abnormal; striatum abnormal; cerebral cortex abnormal; thalamus abnormal metabolic 9706533
ATPAF2 604273 Brain-diseases neurologic #14757859
AUH 250950 Brain-diseases neurologic #6181239 #9762598 #10896289 #15033206
AUH 250950 Metabolic-brain-diseases metabolic #10896289
BCKDHA 248600 Brain-diseases neurologic #1885764 #7672509 #7883996 #8161368 #12042535 #12118532 #14517957 #14567968 #14742428 #16601891
BCKDHB 248600 Brain-diseases neurologic #2022752 #7672509 #8161368 #11448970 #14517957 #14567968 #14742428
BCS1L 124000 Brain-diseases neurologic #11528392 #12910490
BCS1L 603358 Brain-diseases neurologic #7577396 #12215968
CLN3 204200 Brain-diseases neurologic #7553855 #9311735 #9392580 #9450775 #10720276 #10964839 #12363103 #15032383 #16087292
COX10 220110 Brain-diseases neurologic #2834526 #10767350 #12928484
COX15 220110 Brain-diseases neurologic #12474143 #15235026 #15863660
CPOX 121300 Brain-diseases neurologic #7616659 #11202054 #12181641 #15896662
CPS1 237300 Brain-diseases neurologic #6465866 #8273985 #9686343 #9711878 #11301219 #11536261 #12655559 #12955727 #15617192
CPS1 237300 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; lactic acid accumulation; glutamine elevation; lactic acid accumulation within the region of infarction; glutamine elevation within the region of infarction metabolic 9309714
CPT1A 255120 Brain-diseases neurologic #9691089 #11286380 #11286383 #11350182 #11441142 #15669684 #16146704
CPT1A 255120 Metabolic-brain-diseases metabolic #10625081 #11350183 #11441142 #12111367
CPT2 255110 Brain-diseases neurologic #12752755
CPT2 600649 Brain-diseases neurologic #1999498 #11389301 #11477613 #12410208 #12560872
CPT2 600649 Metabolic-brain-diseases CSF protein levels decreased metabolic 12410208
CYB5R3 250800 Brain-diseases neurologic #7668255 #10874300 #11295830
CYBA 233690 Brain-diseases neurologic #1763037
CYP11A1 201710 Brain-diseases neurologic #16705068
CYP11B1 103900 Brain-diseases neurologic #9453343
CYP11B1 202010 Brain-diseases neurologic #11095433
CYP11B2 103900 Brain-diseases neurologic #9453343
CYP27A1 213700 Brain-diseases neurologic #3344851 #7315872 #7915755 #8514861 #10430841 #10519880 #10775536 #12000359 #14572142 #15147532 #16157755 #16278884
CYP27B1 264700 Brain-diseases neurologic #9486994 #9837822 #10566658 #12050193
DBT 248600 Brain-diseases neurologic #2010537 #9621512 #12118532 #14508502 #14517957 #14567968 #14741190 #14742428
DGUOK 251880 Brain-diseases neurologic #11687800 #12205643 #12210798 #15883261 #15964659 #16263314
DLAT 245348 Brain-diseases neurologic #16049940
DLAT 245348 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; lactic acid accumulation; lentiform nuclei abnormal; dorsal midbrain abnormal; cortex abnormal metabolic 16049940
DLD 248600 Brain-diseases neurologic #2909916 #8652022 #9540846 #9934985 #12925875 #14765544 #15712224
DLD 248600 Metabolic-brain-diseases metabolic #9934985
DLST 203740 Brain-diseases neurologic #8295396
DMPK 160900 Brain-diseases neurologic #9402536 #10323316 #10385049 #11807903 #12639730 #14521021
DNAJC19 608977 Brain-diseases neurologic #16055927
ECGF1 603041 Metabolic-brain-diseases CSF protein elevated metabolic 16294144
ECGF1 603041 Brain-diseases neurologic #9683610 #12177387 #14720311 #14757860 #15607208 #15742109 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527
ETFA 231680 Brain-diseases neurologic #12486872 #16510302
ETFA 231680 Metabolic-brain-diseases metabolic #12486872
ETFB 231680 Brain-diseases neurologic #12815589
ETFDH 231680 Brain-diseases neurologic #10356148 #12815589 #15669683
ETHE1 602473 Brain-diseases neurologic #1683940 #7726376 #12382164 #14732903
FECH 177000 Brain-diseases neurologic #16150949
FH 606812 Brain-diseases neurologic #1432428 #2515378 #8200987 #9635293 #15221078 #16151915 #16156009
FXN 229300 Brain-diseases neurologic #11809170 #12745158 #15376485 #16344344
GATM 602360 Brain-diseases neurologic #10762163 #11555793 #12324495
GATM 602360 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; creatine/creatine phosphate abnormal; creatine/creatine phosphate peak absent; white matter abnormal; cerebellum abnormal; cortex abnormal; MRI normal metabolic 10762163 11555793 12324495 12468279
GCDH 231670 Brain-diseases neurologic #1137568 #7564239 #7795610 #9850748 #9856558 #10407775 #10699052 #10960496 #11058907 #11174631 #11825066 #12473778 #12888985 #15985591 #16377226
GCDH 231670 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; choline N acetylaspartate ratios elevated; frontal more than occipital; lactate levels elevated in affected white matter metabolic #12888985 15985591
GCK 602485 Brain-diseases neurologic #9435328 #11916951 #15277402
GCK 606176 Brain-diseases neurologic #11372010
GCSH 605899 Brain-diseases neurologic #1671321 #12402263
GFM1 609060 Brain-diseases neurologic #15537906
GK 307030 Brain-diseases neurologic #8651297 #9719371 #10851254 #11032329 #11479736 #15303806
GK 307030 Metabolic-brain-diseases metabolic #11032329 #16025401
GLDC 605899 Brain-diseases neurologic #1634607 #10798358 #12402263 #15236413 #15824356 #15851735 #15864413 #16450403
GLUD1 606762 Brain-diseases neurologic #8769351 #9108870 #9571255 #10636977 #11214910 #11518822 #16151898
HADH 231530 Brain-diseases neurologic #10347277 #11489939 #14693719 #16176262
HADH 231530 Metabolic-brain-diseases metabolic #16725361
HADHA 609015 Brain-diseases neurologic #9739053 #10352164 #11855930 #12971428 #14630990 #15902556
HADHA 609015 Metabolic-brain-diseases metabolic #9739053
HADHA 609016 Brain-diseases neurologic #8931405 #9003853 #10352164 #10518281 #11855930 #12162610 #14605499
HADHA 609016 Metabolic-brain-diseases metabolic #8094173 #8736409 #8931405 #10518281
HADHB 609015 Brain-diseases neurologic #9259266 #15902556
HADHB 609015 Metabolic-brain-diseases metabolic #12754706 #15243991 #16423905
HD 143100 Brain-diseases neurologic #1532132 #1825793 #2945510 #6217782 #7845404 #8474490 #9443350 #9506560 #9771791 #10483387 #10644798 #10749290 #11524486 #11719256 #12075490 #12075860 #12559154 #12820545 #14684349 #15021927 #15042332 #15338298 #15526960
HD 143100 Metabolic-brain-diseases PET findings; positron emission tomography; glucose metabolic rate reduced; glucose hypometabolism; basal ganglia metabolism abnormal; nucleus caudatus metabolism abnormal; CSF corticotropin releasing factor elevated; CRF elevated; MRS findings; myoinositol elevated; creatine levels abnormal; phosphocreatine levels abnormal; N acetylaspartate peak abnormal metabolic 2456053 2940474 2945510 6217782 9443350 15042332 15526960
HK1 235700 Brain-diseases neurologic #12211198
HLCS 253270 Brain-diseases neurologic #8541348 #8817339 #10190325 #11185745 #12124727 #12855220 #16134170
HMGCL 246450 Brain-diseases neurologic #1886403 #9439591 #9463337 #11129331 #11461194
HMGCL 246450 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; NAA/creatine abnormal; CHO/creatine abnormal; Myoinositol/creatine abnormal; lactate peak abnormal; glutamate glutamine peak abnormal; lipid peak abnormal metabolic #8440722 11461194
HMGCS2 605911 Brain-diseases neurologic #9337379
HSD17B10 300438 Brain-diseases neurologic #11102558 #12112118 #12555940 #12696021 #14729408 #15059617 #16148061
HSD17B10 300438 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; lactic acid accumulation; basal ganglia abnormal; cortex abnormal; white matter abnormal metabolic 12555940 16148061
IVD 243500 Brain-diseases neurologic #2124776 #10191353 #12911192 #15486829 #16602101
LRPPRC 220111 Brain-diseases neurologic #8392290 #8392291
LRRK2 607060 Brain-diseases neurologic #7898705 #15541309 #15732106
LRRK2 607060 Metabolic-brain-diseases PET findings; positron emission tomography; nigrostriatal dysfunction; presynaptic dopamine synthesis abnormal; putamen uptake reductions; caudate uptake reductions metabolic 7898705 15732106 15732108
MCCC1 210200 Brain-diseases neurologic #2738779 #10485305 #11181649 #11893004 #15359379 #15868465
MCCC2 210210 Brain-diseases neurologic #1293382 #8831079 #9537490 #11181649 #11406611 #15877210
MCCC2 210210 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; lactic acid accumulation; lactic acid signal abnormal; cortex abnormal; occipital cortex abnormal; CSF protein levels elevated metabolic 1293382 9537490
ME2 600669 Brain-diseases neurologic #15532013
MLYCD 248360 Brain-diseases neurologic #3709568 #7609455 #8259873 #9177981 #10417274 #12955715 #16275149
MMAA 251100 Brain-diseases neurologic #12438653
MPV17 256810 Brain-diseases neurologic #2300261 #10518083 #11431741 #16909392
MPV17 256810 Metabolic-brain-diseases metabolic #2300261
MRPS16 609204 Brain-diseases neurologic #15505824
MTHFD1 601634 Brain-diseases neurologic #15953655
MTRR 236270 Brain-diseases neurologic #10484769 #12555939 #15714522
MUT 251000 Brain-diseases neurologic #9554742 #10923046 #16186538 #16281286
NAGS 237310 Brain-diseases neurologic #7623444 #9877039 #12447942 #12594532 #12754705 #15480384 #15714518 #16126063
NDUFA12L 252010 Brain-diseases neurologic #16200211
NDUFS1 252010 Brain-diseases neurologic #11349233 #15576045 #15824269
NDUFS2 252010 Brain-diseases neurologic #11220739 #15576045
NDUFS3 252010 Brain-diseases neurologic #14729820
NDUFS4 252010 Brain-diseases neurologic #9463323 #10944442 #11181577 #12616398 #14765537
NDUFS6 252010 Brain-diseases neurologic #15372108
NDUFS7 252010 Brain-diseases neurologic #1770777
NDUFS8 252010 Brain-diseases neurologic #9837812 #15981016 #16142472
NDUFS8 252010 Metabolic-brain-diseases CSF protein levels decreased metabolic 9837812
NDUFV1 252010 Brain-diseases neurologic #10080174 #11349233 #15576045 #15981016
NDUFV2 252010 Brain-diseases neurologic #12754703
OAT 258870 Brain-diseases neurologic #10430418 #10604138 #15159649 #16151897
OAT 258870 Metabolic-brain-diseases MRS findings; phosphocreatine depletion; brain phosphocreatine contents reduced; basal ganglia metabolism abnormal metabolic 10430418
OPA3 258501 Brain-diseases neurologic #12126933
OTC 311250 Metabolic-brain-diseases metabolic #429491 #11793468
OTC 311250 Brain-diseases neurologic #429491 #3508674 #3945292 #8732901 #10885542 #11148526 #11260212 #11793468 #11891099 #12083811 #12403252 #12647200 #12788037 #15174800 #15243986 #15578616
OXCT1 245050 Brain-diseases neurologic #11757586
PANK2 234200 Brain-diseases neurologic #15465096 #15911822 #15944911 #16437574 #16450344
PARK7 105500 Brain-diseases neurologic #16240358
PARK7 606324 Metabolic-brain-diseases PET findings; positron emission tomography; putamen uptake reductions; caudate uptake reductions; glucose hypometabolism metabolic 15365989 15565491
PC 266150 Brain-diseases neurologic #6402999 #6422150 #7503391 #7720232 #7822739 #9585002 #9585612 #10323732 #16278852 #16325442
PCCA 606054 Brain-diseases neurologic #7957390 #9461363 #10780784 #15164333
PCCB 606054 Brain-diseases neurologic #6820422 #7957390 #9461363 #9683601 #10488817 #10780784 #12409268 #16324621
PCCB 606054 Metabolic-brain-diseases metabolic #10488817
PDHA1 308930 Brain-diseases neurologic #1641082 #7898978 #8498846 #8982956 #9187674
PDHA1 312170 Brain-diseases neurologic #1338114 #3137520 #8504306 #8504309 #9187674 #9686362 #10486093 #10679936 #11870584 #12163191 #12379317 #14635113 #15384102 #15558317 #16256390 #16412675
PDHB 179060 Brain-diseases neurologic #15138885
PDHX 245349 Brain-diseases neurologic #8229524 #8584393 #9399911 #9501264 #11935326 #12557299 #14518830 #15303005 #16566017
PEO1 271245 Brain-diseases neurologic #8133312 #8552218 #9027505 #9879682 #16135556
PEO1 607459 Brain-diseases neurologic #15668446
PEO1 609286 Brain-diseases neurologic #1634620
PINK1 605909 Metabolic-brain-diseases PET findings; positron emission tomography; putamen uptake reductions; bilaterally; SPECT findings; presynaptic abnormalities; postsynaptic abnormalities; dopaminergic denervation metabolic 15955954 16547921
POLG 203700 Brain-diseases neurologic #15689359 #15929042 #16177225 #16545482 #16621917
POLG 258450 Brain-diseases neurologic #15477547 #16401742 #16621917 #16638794
POLG 258450 Metabolic-brain-diseases CSF protein elevated metabolic 15477547 16638794
POLG 607459 Metabolic-brain-diseases CSF protein elevated metabolic 12565911 15824347
POLG 607459 Brain-diseases neurologic #12565911 #15824347
PPOX 176200 Brain-diseases neurologic #11298551 #12859407 #15643299
PRODH 239500 Brain-diseases neurologic #12217952 #12525555
SCO1 220110 Brain-diseases neurologic #11013136
SCO2 604377 Brain-diseases neurologic #10545952 #10749987 #10805329 #11673586 #14994243 #15210538 #15499950 #16326995
SDHA 252011 Brain-diseases neurologic #1492653 #7550341 #12112045 #16361598
SDHA 252011 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; succinate accumulation; white matter abnormal; cerebral white matter abnormal; cerebellar white matter abnormal metabolic 12112045
SDHB 115310 Brain-diseases neurologic #9509062 #11404820 #12213855 #14715873 #15371856 #15473885 #16304664 #16317055
SDHC 605373 Brain-diseases neurologic #15342702
SDHD 168000 Brain-diseases neurologic #12782822 #16317055
SLC19A2 249270 Brain-diseases neurologic #5767338 #10978358 #16373304
SLC25A13 603471 Brain-diseases neurologic #10369257 #11153906 #12132524 #12512993 #12602510 #15050970 #15805705 #16278034
SLC25A13 605814 Brain-diseases neurologic #11793471 #12111366 #15542392
SLC25A13 605814 Metabolic-brain-diseases metabolic #11281457 #11343052 #11793471 #11999983 #14680984 #15542392
SLC25A15 238970 Brain-diseases neurologic #1432421 #9329423 #10369256 #11552031 #16376511
SLC25A19 607196 Brain-diseases neurologic #12185364 #12376931
SLC25A20 212138 Brain-diseases neurologic #1598097 #9686371 #10384385 #10408757 #10876004 #12801121 #15365988
SLC25A22 609304 Brain-diseases neurologic #15592994
SLC25A4 609283 Brain-diseases neurologic #12112115 #12565915 #16155110
SLC25A4 609283 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; choline levels abnormal; white matter abnormal; choline reduction in paratrigonale white matter and in cerebellar hemispheres metabolic 12565915
SOD1 105400 Brain-diseases neurologic #10751275 #14517684 #15235802
SPAST 182601 Brain-diseases neurologic #11015453 #11266693 #11723204 #11843700 #15210521 #15667412
SPG7 607259 Brain-diseases neurologic #9635427 #14985266 #16534102
STAR 201710 Brain-diseases neurologic #8634702 #9141542 #14764819 #16118340
SUCLA2 609560 Brain-diseases neurologic #15877282
SUOX 272300 Brain-diseases neurologic #9050047 #9600976 #10519592 #11825068 #12001203 #12112661 #12368985 #15952210 #16140720
SUOX 272300 Metabolic-brain-diseases CSF protein elevated metabolic 12368985
SURF1 220110 Brain-diseases neurologic #9837813 #9843204 #10746561 #11409433 #11955926 #14557577 #15214016 #16222681 #16225813 #16326995
TAT 276600 Brain-diseases neurologic #9544843 #12548382 #16574453
TAZ 302060 Brain-diseases neurologic #16235007
TIMM8A 304700 Brain-diseases neurologic #11405816 #11449109 #11803487 #12805099
TIMM8A 304700 Metabolic-brain-diseases PET findings; positron emission tomography; basal ganglia hypometabolism; occipital lobes hypometabolism; visual cortex hypometabolism; rostral parietal lobes hypometabolism metabolic 12805099
TIMM8A 311150 Brain-diseases neurologic #3425626 #7195649 #11803487
TIMM8A 311150 Metabolic-brain-diseases PET findings; positron emission tomography; abnormally low uptake; parietal lobes abnormal; temporal lobes abnormal metabolic 11803487
TK2 609560 Brain-diseases neurologic #12269728 #12655576 #16504786
UROS 263700 Brain-diseases neurologic #12533808
WFS1 222300 Brain-diseases neurologic #9817917 #10521293 #11260218 #12707373 #15151504 #15277431 #15605410

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