Mitochondria Phenome Knowledgebase

Phenotypic Feature Acylcarnitine-profile-abnormal finds 27 Gene-Feature associations that are associated with 27 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADL 201460 Acylcarnitine-profile-abnormal elevated long chain acylcarnitines; elevated C12:0 C14:0 C14:1 C16:0 acylcarnitines metabolic 2000272
ACADM 201450 Acylcarnitine-profile-abnormal elevated medium chain acylcarnitines; elevated C6:0 C8:0 C8:1 C10:1 acylcarnitines; octanoylcarnitine elevated metabolic 2246856 2279505 7876853 11349232 11409868 11486912 12897989 15858970
ACADS 201470 Acylcarnitine-profile-abnormal elevated C4 acylcarnitine; elevated butyrylcarnitine; C4 elevation during episodes metabolic 7776094 12872838 14595061 15534767
ACADSB 610006 Acylcarnitine-profile-abnormal elevated C5 acylcarnitine metabolic 10832746 12837870 15615815 16317551
ACADVL 201475 Acylcarnitine-profile-abnormal elevated long chain acylcarnitines; elevated C12:0 C14:0 C14:1 C16:0 acylcarnitines metabolic 7479827 9546340 9877038 10910451 11158518 11433098
ACAT1 203750 Acylcarnitine-profile-abnormal 2 methyl 3 hydroxybutyrylcarnitines; elevated C5(tiglyl)carnitines; propionyl acylcarnitines; isobutyryl acylcarnitines; isovaleryl acylcarnitines metabolic 8930414 15877211
AUH 250950 Acylcarnitine-profile-abnormal elevated 3 hydroxyisovalerylcarnitine; elevated C5 hydroxy acylcarnitine metabolic 12655555 15033206
CPT1A 255120 Acylcarnitine-profile-abnormal acylcarnitine ratios abnormal; acetyl carnitines elevated; propionyl carnitines elevated metabolic 11286383 15669684 16146704
CPT2 255110 Acylcarnitine-profile-abnormal elevated long chain acylcarnitines; elevated C16:0 C18:1 C18:2 acylcarnitines; palmitoylcarnitine elevated metabolic 8201482 11999976 15642848
CPT2 600649 Acylcarnitine-profile-abnormal elevated long chain acylcarnitines; elevated C16:0 C18:1 C18:2 acylcarnitines metabolic 9600456 11389301 12410208
ETFA 231680 Acylcarnitine-profile-abnormal elevated C4 acylcarnitine; elevated C5 acylcarnitine; elevated C6 acylcarntine; elevated C14:1 acylcarnitine; elevated C16:0 acylcarnitine; elevated long chain acylcarnitines metabolic 1430199 16510302
ETFB 231680 Acylcarnitine-profile-abnormal elevated C4 acylcarnitine; elevated C5 acylcarnitine; elevated C6 acylcarntine; elevated C14:1 acylcarnitine; elevated C16:0 acylcarnitine; elevated long chain acylcarnitines metabolic 12706375 16510302
ETFDH 231680 Acylcarnitine-profile-abnormal elevated C4 acylcarnitine; elevated C5 acylcarnitine; elevated C6 acylcarntine; elevated C12 acylcarnitine metabolic 10356148 15669683
ETHE1 602473 Acylcarnitine-profile-abnormal elevated butyrylcarnitine; elevated isovalerylcarnitine; elevated 2 methylbutyrylcarnine; elevated hexanoylcarnitine; elevated C4 C5 acylcarnitines metabolic 14732903
GCDH 231670 Acylcarnitine-profile-abnormal elevated C5 dicarboxylic acylcarnitine; glutarylcarnitine elevated metabolic 10407775 11174631 16377226
HADH 231530 Acylcarnitine-profile-abnormal hydroxybutyrylcarnitine elevated; C16:C18 species elevated; C4 carnitines elevated metabolic 10347277 10931422 11489939 14641012 16725361
HADHA 609015 Acylcarnitine-profile-abnormal plasma; blood spots; elevated long chain 3 hydroxy acylcarnitines; elevated 3 hydroxy tetradecanoylcarnitines; elevated 3 hydroxy hexadecanoylcarnitines; elevated 3 hydroxy oleylcarnitines; elevated 3 hydroxy stearoylcarnitines; elevated 3 hydroxy C16:0 C16:1 C1 metabolic 10400133 12838198 12971428 15902556
HADHA 609016 Acylcarnitine-profile-abnormal elevated long chain acylcarnitines; elevated 3 hydroxy acylcarnitines metabolic 11855930 12162610 14605499
HADHB 609015 Acylcarnitine-profile-abnormal plasma; blood spots; elevated 3 hydroxy acylcarnitines; elevated 3 hydroxy C16:0 C16:1 C18:1 C18:2 acylcarnitines; elevated tetradecenoylcarnitine; elevated hexadecenoylcarnitine metabolic 11855930 12548384 12838198 15243991 15902556 16423905
HSD17B10 300438 Acylcarnitine-profile-abnormal mildly abnormal; elevated C5:1 acylcarnitine; elevated C5 OH acycarnitine metabolic 11102558 12112118 14729408 15059617 16148061
IVD 243500 Acylcarnitine-profile-abnormal elevated C5 acylcarnitine; isovalerylcarnitine metabolic 8830183 15486829 16602101
MCCC1 210200 Acylcarnitine-profile-abnormal elevated C5 OH acylcarnitine; elevated 3 hydroxyisovalerylcarnitine metabolic 2738779 10485305 11170888 11406611 15359379 16010683
MCCC2 210210 Acylcarnitine-profile-abnormal elevated C5 OH acylcarnitine; elevated 3 hydroxyisovalerylcarnitine metabolic 9544913 11170888 11181649 11406611 15877210 16010683
MLYCD 248360 Acylcarnitine-profile-abnormal malonylcarnitine elevated; propionylcarnitin elevated metabolic 7609455 9177981 12955715 16275149
MUT 251000 Acylcarnitine-profile-abnormal elevated C3 acylcarnitine; propionylcarnitine elevated metabolic 12118529 16451139
PCCA 606054 Acylcarnitine-profile-abnormal elevated propionylcarnitine C3 acylcarnitines metabolic 10767396 15164333 15614906
PCCB 606054 Acylcarnitine-profile-abnormal elevated propionylcarnitine C3 acylcarnitines metabolic 10488817 10767396 10910839 15614906
PDHA1 308930 Acylcarnitine-profile-abnormal decreased free carnitine metabolic 8982956
SLC25A20 212138 Acylcarnitine-profile-abnormal elevated long chain acylcarnitines; elevated C16:0 C18:1 C18:2 acylcarnitines metabolic 9399886 9686371 10384385 10408757 10876004 11350184 12801121 15057979 15159657 15365988

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