Mitochondria Phenome Knowledgebase

Phenotypic Feature Hyperammonemia finds 41 Gene-Feature associations that are associated with 40 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 238700 Hyperammonemia ammonia levels elevated metabolic 6015890
ACADM 201450 Hyperammonemia ammonia levels elevated metabolic 11346377 12897989
ACADVL 201475 Hyperammonemia ammonia levels elevated metabolic 9498103
ACAT1 203750 Hyperammonemia ammonia levels elevated; mild metabolic 10604145 11161836 12754704
ALDH18A1 138250 Hyperammonemia mild; hyperammonaemia metabolic 11092761 15517380
BCKDHA 248600 Hyperammonemia metabolic 16601891
CPS1 237300 Hyperammonemia ammonia levels elevated; severe; hyperammonemic; hyperammonemic crisis metabolic 6465866 8273985 8486760 9711878 11301219 11474210 11536261 12655559 12955727 15617192
CPT1A 255120 Hyperammonemia ammonia levels elevated; blood ammonia elevated; mild; moderate metabolic 11286380 11350183 15669684
CPT2 600649 Hyperammonemia ammonia levels elevated metabolic 1999498 8682496 11389301
DGUOK 251880 Hyperammonemia ammonia levels elevated metabolic 15639197 15883261 15964659
DLAT 245348 Hyperammonemia ammonia levels elevated metabolic 2112155
DLD 248600 Hyperammonemia ammonia levels elevated; mild metabolic 9298831
ETFA 231680 Hyperammonemia ammonia levels elevated metabolic 1430199 12486872 12815589 16510302
ETFB 231680 Hyperammonemia ammonia levels elevated metabolic 12706375
FH 606812 Hyperammonemia ammonium elevated metabolic 2515378
GLUD1 606762 Hyperammonemia ammonia levels elevated; plasma ammonium elevated metabolic 8769351 9108870 9571255 10636977 10871207 11214910 11297618 11518822 14967154 16151898
HADH 231530 Hyperammonemia modest hyperammonemia metabolic 16725361
HADHA 609015 Hyperammonemia ammonia levels elevated; mild metabolic 10400133 11855930 12971428
HADHA 609016 Hyperammonemia ammonia levels elevated; ammonemia; blood ammonia increased metabolic 8736409 8931405 11855930 12162610
HLCS 253270 Hyperammonemia ammonia levels elevated; mild metabolic 2515377 8319716 8541348 9686819 10190325 10770035 12124727
HMGCL 246450 Hyperammonemia ammonia levels elevated metabolic 1886403 9439591 9463337 11129331 15308132
HSD17B10 300438 Hyperammonemia ammonia levels elevated; mild metabolic 11102558
IVD 243500 Hyperammonemia ammonia levels elevated metabolic 2124776 12911192 16602101
MCCC1 210200 Hyperammonemia ammonia levels elevated metabolic 2738779 11170888 15359379
MCCC2 210210 Hyperammonemia ammonia levels elevated metabolic 1293382 11170888 11181649
MLYCD 248360 Hyperammonemia ammonia levels elevated metabolic 16275149
MMAA 251100 Hyperammonemia ammonia levels elevated metabolic 6132336
MMAB 251110 Hyperammonemia ammonia levels elevated metabolic 6132336 12471062
MUT 251000 Hyperammonemia ammonia levels elevated metabolic 10893496 11161845 11350191 15643616 16281286 16435223 16451139
NAGS 237310 Hyperammonemia ammonia levels elevated; severe metabolic 7623444 9870213 9877039 12447942 12594532 12754705 15480384 15714518 15878741 16126063
OAT 258870 Hyperammonemia ammonia levels elevated; mild; transient metabolic 16151897
OTC 311250 Hyperammonemia ammonia levels elevated; episodes metabolic 3508674 8008687 8441099 8732901 8829665 9056557 10064660 11148526 11793468 11891099 12083811 12647200 12788037 15174800 15243986 15578616
PC 266150 Hyperammonemia ammonia levels elevated metabolic 826106 6424438 7503391 7720232 9585002 12112657 15781190
PCCA 606054 Hyperammonemia ammonia levels elevated metabolic 2037281 9461363 13693094 15164333 15614906
PCCB 606054 Carnitine-responsive hyperammonemia resolved; treatment with carnitine; treatment with low protein miscellaneous 10488817
PCCB 606054 Hyperammonemia ammonia levels elevated metabolic 2037281 9461363 10488817 10820128 10910839 12409268 15614906
PDHA1 308930 Hyperammonemia ammonia levels elevated; slight metabolic 8982956
PDHB 179060 Hyperammonemia ammonia levels elevated; neonatal form metabolic 15138885
PDHX 245349 Hyperammonemia ammonia levels elevated metabolic 16566017
SLC25A13 603471 Hyperammonemia ammonia levels elevated metabolic 11153906 11432966 12132524 12512993 12602510 14680984 15050970 15805705 16278034
SLC25A13 605814 Hyperammonemia ammonia levels elevated metabolic 11343053 11999983 12424587 15542392
SLC25A15 238970 Hyperammonemia ammonia levels elevated metabolic 1432421 9329423 10369256 10805333 11355015 11814739 14759633
SLC25A20 212138 Hyperammonemia ammonia levels elevated metabolic 9686371 10384384 10384385 10408757 10876004 11350184 12801121 15057979 15159657 15365988

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