Mitochondria Phenome Knowledgebase

Phenotypic Feature Seizures finds 100 Gene-Feature associations that are associated with 97 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABAT 137150 Seizures convulsions; chewing movements; bicycling movements neurologic 9746906 10407778
ABCD1 300100 Seizures nonfebrile seizures; convulsions; epilepsy; generalized epileptic seizures neurologic 9702690 10980309 11204280 16380594
ACADM 201450 Seizures seizures; convulsions neurologic 9158144 11349232
ACADS 201470 Electroencephalogram-abnormal multifocal seizures; poor background activity neurologic 3571488
ACADS 201470 Seizures seizures; convulsions; multifocal seizures neurologic 3571488 7776094 11134486
ACADSB 610006 Seizures epilepsy; seizures; spasms neurologic 16317551
ACADVL 201475 Seizures neurologic 16488171
ACAT1 203750 Seizures seizures; convulsions neurologic 11161836
AGXT 259900 Seizures seizures; convulsions neurologic 10586179
ALDH18A1 138250 Seizures tonic clonic seizures neurologic 15517380
ALDH4A1 239510 Seizures recurrent seizures; febrile seizures; convulsions; febrile convulsions; childhood seizures neurologic 956388 2383933 2624476 4825691 9700195 15214748
ALDH5A1 271980 Seizures grand mal epilepsy; epilepsy; spasms; myoclonic; tonic clonic seizures; status epilepticus neurologic 9093300 9266358 12743223 14512218 15287248
AMACR 604489 Seizures epilepsy; epileptic seizures; focal seizures; jerks; status epilepticus neurologic 10655068 11861706 15249642
AMT 605899 Seizures intractable seizures neurologic 8005589 9600239 12948742 16450403
ATP7B 277900 Seizures tetany; spasms; epilepsy; maybe treatment related; grand mal; partial complex; convulsions; tonic clonic seizures; epileptic neurologic 3052696 6888480
ATPAF2 604273 Seizures neurologic 14757859
AUH 250950 Seizures tonic clonic seizures neurologic 9762598 10896289 15033206
BCKDHA 248600 Seizures opisthotonos; tonic clonic seizures neurologic 1885764 7672509 7883996 8161368 12042535 14567968 14742428
BCKDHB 248600 Seizures opisthotonos; seizures; convulsions neurologic 2022752 7672509 8161368 11448970 14567968 14742428
BCS1L 603358 Seizures neurologic 7577396 12215968
CLN3 204200 Seizures epileptic seizures; epilepsy; tonic clonic seizures; generalized seizures neurologic 7553855 9311735 9392580 9450775 10964839 12363103 15032383 16087292
COX10 220110 Seizures epilepsy; status epilepticus; convulsions neurologic 10767350
COX15 220110 Seizures epileptic seizures neurologic 12474143
CPOX 121300 Seizures epilepsy; epileptic syndrome neurologic 7616659 11202054 12181641 15896662
CPS1 237300 Seizures convulsions; tonic clonic seizures; generalized seizures; lip smacking; bicycling neurologic 6465866 8273985 9711878 11301219 11536261 12955727
CPT1A 255120 Seizures hypoglycaemic seizure neurologic 11286383 11350182 11441142 15669684
CPT2 600649 Seizures seizures refractory to antiepileptic drugs neurologic 1999498 11389301 12410208 12560872
CYB5R3 250800 Seizures opisthotonos; epilepsia neurologic 7668255 10874300
CYP11A1 201710 Seizures tonic clonic convulsions neurologic 16705068
CYP27A1 213700 Seizures epilepsy; convulsions; febrile convulsions; grand mal; tonic clonic seizures neurologic 7315872 7915755 8514861 10430841 10775536 15147532 16157755 16278884
CYP27B1 264700 Seizures hypocalcemic seizures; convulsions neurologic 9486994 9837822 10566658 12050193
DBT 248600 Seizures convulsions; opisthotonos neurologic 2010537 9621512 14508502 14567968 14741190 14742428
DGUOK 251880 Seizures neurologic 12205643 15964659
DLAT 245348 Seizures arching of the body; eye rolling; wrist flexions; feet inversions neurologic 16049940
DLD 248600 Seizures occasionally; infection triggered seizures neurologic 8652022 9540846 12925875
DNAJC19 608977 Seizures neurologic 16055927
ECGF1 603041 Seizures epilepsy neurologic 16530527
ETFA 231680 Seizures convulsions neurologic 12486872 16510302
ETFDH 231680 Seizures episodic seizures neurologic 12815589
ETHE1 602473 Seizures neurologic 12382164
FH 606812 Seizures generalized; epilepsy; spasms; opisthotonic posture; hyperextension; opisthotonos neurologic 9635293 15221078 16151915 16156009
GATM 602360 Seizures febrile seizure; epilepsy neurologic 10762163 11555793 12324495
GCDH 231670 Seizures opisthotonos; opisthotonic posturing; convulsions; tonic clonic seizures; focal seizures neurologic 1137568 7795610 9850748 9856558 10960496 11825066 12888985 15985591 16377226
GCK 602485 Seizures nonketotic; hypoglycemic seizures neurologic 9435328 11916951 15277402
GCK 606176 Seizures epilepsy neurologic 11372010
GCSH 605899 Seizures convulsions neurologic 1671321
GK 307030 Seizures generalized seizures; convulsions; hypoglycemia related; infection related neurologic 8651297 9719371 10851254 11032329 11479736 15303806
GLDC 605899 Seizures convulsions; spasms neurologic 1634607 10798358 12402263 15824356 15851735 15864413 16450403
GLUD1 606762 Seizures epilepsy; tonic clonic seizures; convulsions; hypoglycaemic seizures; afebrile seizures neurologic 8769351 9108870 9571255 10636977 11214910 11518822 16151898
HADH 231530 Seizures grand mal convulsion; convulsions neurologic 11489939 14693719
HADHA 609015 Seizures hypoglycemia triggered; multifocal seizures neurologic 11855930 12971428 14630990
HADHA 609016 Seizures spasms; infantile spasms; epilepsy; tonic clonic seizures; hypoglycemic seizures; status epilepticus neurologic 9003853 10518281 11855930 12162610 14605499
HD 143100 Seizures younger patients; convulsions; epilepsy; myoclonus epilepsy; tonic clonic seizure; epileptiform abnormalities; nonepileptiform abnormalities; electrographic seizures neurologic 7845404 9443350 9506560 11524486 12075490 14684349 15042332 15338298 15526960
HLCS 253270 Seizures generalized seizures neurologic 8541348 8817339 10190325 11185745 12124727 16134170
HMGCL 246450 Seizures convulsions; epilepsy; multifocal epilepsy; status epilepticus neurologic 1886403 9439591 9463337 11129331
HMGCS2 605911 Seizures generalized seizures neurologic 9337379
HSD17B10 300438 Seizures seizure like movements; repeated head droppings; epilepsy; hyperextension; convulsions neurologic 11102558 12112118 12696021 14729408 16148061
IVD 243500 Seizures acidosis progressing to seizures neurologic 12911192 16602101
MCCC1 210200 Seizures generalized seizures; infantile spasms; dusky spells neurologic 2738779 10485305 11181649 15359379 15868465
MCCC2 210210 Seizures abnormal eye movements; head rolling; convulsions; tonic clonic seizures; epilepsy neurologic 1293382 8831079 11181649 11406611
ME2 600669 Consciousness-disorders absence seizures; staring spells with loss of consciousness neurologic 15532013
ME2 600669 Seizures generalized epilepsy; epilepsy; convulsions neurologic 15532013
MLYCD 248360 Seizures convulsions; febrile convulsions; afebrile seizures neurologic 3709568 7609455 8259873 10417274 12955715
MMAA 251100 Seizures neurologic 12438653
MPV17 256810 Seizures hypoglycemic seizures neurologic 11431741
MTRR 236270 Seizures neonatal seizures; epilepsy; staring spells; focal epilepsy neurologic 10484769 12555939 15714522
MUT 251000 Seizures neurologic 9554742 10923046 16281286
NAGS 237310 Seizures generalized seizures; tonic clonic seizures; convulsions neurologic 7623444 12447942 12594532 15714518 16126063
NDUFS2 252010 Seizures epilepsy neurologic 15576045
NDUFS3 252010 Seizures convulsion; febrile seizures neurologic 14729820
NDUFS4 252010 Seizures convulsions; tonic clonic seizures neurologic 9463323 11181577
NDUFS6 252010 Seizures neurologic 15372108
NDUFS8 252010 Seizures eye flutter; erratic seizures; epilepsy neurologic 9837812 15981016
NDUFV1 252010 Seizures myoclonic epilepsy; convulsions neurologic 10080174 11349233 15981016
OAT 258870 Seizures convulsions; epilepsy; febrile convulsion neurologic 10604138
OTC 311250 Seizures convulsions; generalized seizures neurologic 3508674 3945292 8732901 10885542 11793468 11891099 12083811 12403252 12647200
OXCT1 245050 Seizures episodic seizures neurologic 11757586
PC 266150 Seizures convulsions; petite mal; blnking; tripping; tonic clonic seizures; generalized seizures neurologic 6422150 7503391 9585002 9585612 16278852
PCCA 606054 Seizures convulsions; epilepsia neurologic 7957390 10780784
PCCB 606054 Seizures epilepsy; partial epilepsy; spasms; infantile spasms; convulsions neurologic 7957390 10488817 10780784 12409268 16324621
PDHA1 308930 Seizures myoclonic seizures neurologic 8982956
PDHA1 312170 Seizures spasms; infantile spasms; west syndrome; epilepsy; spells; eye rolling neurologic 1338114 10486093 11870584 15384102 16412675
PDHX 245349 Seizures tonic clonic seizures; status epilepticus neurologic 11935326 14518830 16566017
PEO1 271245 Seizures epileptic seizures; epilepsy; status epilepticus; seizure attacks; convulsions neurologic 8133312 8552218 9027505 9879682 16135556
PEO1 607459 Seizures generalized convulsions; recurrent seizures neurologic 15668446
POLG 203700 Seizures intractable seizures; epilepsia partialis continua; refractory; mixed type seizures; epilepsy neurologic 15689359 15929042 16177225 16545482 16621917
POLG 258450 Seizures partial epileptic seizures; epilepsy; status epilepticus; tonic clonic seizures; motor seizures; myoclonus epilepsy neurologic 15477547 16401742 16621917 16638794
POLG 607459 Seizures epilepsy; status epilepticus neurologic 15824347
PPOX 176200 Seizures convulsion; epilepsy neurologic 11298551 12859407 15643299
PRODH 239500 Seizures epilepsy; status epilepticus neurologic 12217952 12525555
SCO2 604377 Seizures neurologic 10749987 10805329
SDHA 252011 Seizures focal seizures; generalized seizures; Blitz Nick Salaam cramps; BNS neurologic 16361598
SLC25A13 603471 Seizures epilepsy; tonic clonic seizures; convulsions neurologic 11153906 12132524 12512993 15050970 15805705
SLC25A13 605814 Seizures afebrile convulsion neurologic 15542392
SLC25A15 238970 Seizures epilepsy; myoclonic seizures neurologic 10369256 11552031 16376511
SLC25A19 607196 Seizures tonic clonic seizures neurologic 12185364 12376931
SLC25A20 212138 Seizures convulsions neurologic 1598097 9686371 10408757 10876004 12801121 15365988
SLC25A22 609304 Seizures partial seizures; motor; burst suppression neurologic 15592994
SPAST 182601 Seizures late onset seizures; atypical seizures; generalized epilepsy; epilepsy with absence; convulsions; tonic clonic seizures neurologic 11723204 11843700 15667412
STAR 201710 Seizures convulsions neurologic 8634702 9141542 14764819
SUCLA2 609560 Seizures generalized seizures neurologic 15877282
SUOX 272300 Myoclonus ankle; tonic myoclonic seizures; myoclonic jerks neurologic 10519592 12001203 12368985 15952210 16140720
SUOX 272300 Seizures spasms; opisthotonos; tonic clonic seizures; convulsions; tonic myoclonic seizures; intractable seizures neurologic 9050047 9600976 10519592 11825068 12001203 12112661 12368985 15952210 16140720
SURF1 220110 Seizures epilepsy neurologic 16222681
TAT 276600 Seizures convulsions; seizure episodes; tonic clonic seizures neurologic 9544843 12548382 16574453
TK2 609560 Seizures atonic seizures neurologic 16504786
WFS1 222300 Seizures epilepsy; myoclonic epilepsy neurologic 12707373 15277431 15605410

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