Mitochondria Phenome Knowledgebase

Phenotypic Feature Ethylmalonic-aciduria finds 20 Gene-Feature associations that are associated with 12 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADS 201470 Ethylmalonic-aciduria ethylmalonic acids elevated; ethylmalonate elevated metabolic 2808706 3571488 7776094 9499414 9578969 9932958 11134486 12061367 12872838 14595061 15534767
ACADS 201470 Organic-acids-abnormal ethylmalonic aciduria; methylsuccinic aciduria; citric acid decreased; ketonuria metabolic 2808706 #3335634 3571488 7776094 #9499414 #9578969 9932958 11134486 11524729 12061367 12872838 14595061 15534767
ALDH6A1 603178 Methylmalonic-aciduria methylmalonate elevated; methylmalonic acid elevated metabolic 3939535 7609453 9787093
ALDH6A1 603178 Organic-acids-abnormal methylmalonic aciduria; 3 hydroxypropionic aciduria; 3 aminoisobutyric aciduria; 3 hydroxyisobutyric aciduria metabolic #3939535 7609453 9787093 10947204
ETFA 231680 Ethylmalonic-aciduria ethylmalonic acid elevated metabolic 1430199 12486872 12815589
ETFA 231680 Organic-acids-abnormal ethylmalonic aciduria; glutaric aciduria; butyric aciduria; methylbutyric aciduria; isobutyric aciduria; isovaleric aciduria; propionic aciduria; dicarboxylic aciduria; 2 hydroxyglutaric aciduria; 3 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 5 hydroxyhexanoic aciduria metabolic 1430199 12486872 12815589 16510302
ETFB 231680 Ethylmalonic-aciduria ethylmalonic acid elevated; ethylmalonate elevated metabolic 9350306 12706375 12815589
ETFB 231680 Organic-acids-abnormal ethylmalonic aciduria; glutaric aciduria; butyric aciduria; methylbutyric aciduria; isobutyric aciduria; isovaleric aciduria; propionic aciduria; dicarboxylic aciduria; 2 hydroxyglutaric aciduria; 3 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 5 hydroxyhexanoic aciduria metabolic 9350306 12706375 12815589 16510302
ETFDH 231680 Ethylmalonic-aciduria ethylmalonic acid elevated; ethylmalonate elevated metabolic 12815589 15662686 15669683
ETFDH 231680 Organic-acids-abnormal ethylmalonic aciduria; glutaric aciduria; butyric aciduria; methylbutyric aciduria; isobutyric aciduria; isovaleric aciduria; propionic aciduria; dicarboxylic aciduria; 2 hydroxyglutaric aciduria; 3 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 5 hydroxyhexanoic aciduria metabolic 10356148 #12359134 12815589 15662686 15669683
ETHE1 602473 Organic-acids-abnormal ethylmalonic aciduria; adipic aciduria; methylsuccinic aciduria metabolic 1683940 7726376 9475600 12382164 14732903
ETHE1 602473 Ethylmalonic-aciduria ethylmalonic acid elevated; ethylmalonate elevated metabolic 1683940 7726376 9475600 12382164 14732903
MLYCD 248360 Methylmalonic-aciduria methylmalonic acid elevated metabolic 3709568 6145813 7609455 9177981 10417274 11461195 12955715 16275149
MLYCD 248360 Organic-acids-abnormal malonic aciduria; methylmalonic aciduria; fumaric aciduria; 3 hydroxypropionate uria; malate uria; dicarboxylic aciduria; glutaric aciduria; 3 methylglutaconic acids elevated metabolic 3709568 6145813 7609455 8259873 9177981 9869665 10417274 11461195 11550227 12955715 16275149
MMAA 251100 Methylmalonic-aciduria methylmalonic acidemia metabolic 6132336 15308131 15523652
MMAB 251110 Methylmalonic-aciduria methylmalonic acidemia metabolic 6132336 7213387 16410054
MTRR 236270 Methylmalonic-aciduria methylmalonic acid elevated metabolic 10484769
MUT 251000 Methylmalonic-aciduria methylmalonic acid elevated; methylmalonic acidemia; methymalonicaciduria metabolic 1346616 1977311 10893496 11350191 11528502 12118529 12402345 12948746 15643616 15781199 16186538 16451139
SLC25A20 212138 Methylmalonic-aciduria mathylmalonic acid elevated metabolic 10876004
SLC25A20 212138 Organic-acids-abnormal dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; hexanoic aciduria; octanoic aciduria; decanoic aciduria; methylmalonic aciduria; methylcitric aciduria; 3 hydroxypropionic aciduria metabolic 9544911 9686371 10384385 10408757 10876004 11350184 12801121 12890396 15057979 15365988

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