Mitochondria Phenome Knowledgebase

Phenotypic Feature Dicarboxylic-aciduria finds 38 Gene-Feature associations that are associated with 22 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADL 201460 Dicarboxylic-aciduria dicarboxylic acids elevated metabolic 2000272 8739959
ACADL 201460 Organic-acids-abnormal lactic aciduria; dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; 3 hydroxydicarboxylic aciduria; 3 hydroxyadipic aciduria; 3 hydroxysuberic aciduria; 3 hydroxysebacic aciduria metabolic 2000272 8739959
ACADM 201450 Dicarboxylic-aciduria dicarboxylic acids elevated; medium chain dicarboxylic aciduria metabolic 2246856 2279505 2380628 7929823 11349232 11409868 12897989 15858970
ACADM 201450 Organic-acids-abnormal dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; decanoic aciduria; elevated octanoylcarnitine; suberylglycinuria metabolic 2246856 #2279505 2380628 7876853 7929823 #11349232 #11409868 #12897989 #15858970
ACADS 201470 Dicarboxylic-aciduria mild; elevation of dicarboxylic acids; urine sample metabolic 3335634 3571488 9578969
ACADVL 201475 Dicarboxylic-aciduria dicarboxylic acids elevated metabolic 7494405 9498103
ACADVL 201475 Organic-acids-abnormal lactic aciduria; dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; 3 hydroxydicarboxylic aciduria; 3 hydroxyadipic aciduria; 3 hydroxysuberic aciduria; 3 hydroxysebacic aciduria metabolic #7494405 9498103 9877038 11158518
ACAT1 203750 Dicarboxylic-aciduria metabolic 8930414
CPT1A 255120 Dicarboxylic-aciduria dicarboxylic acids elevated; hypoketotic dicarboxylic aciduria; medium chain dicarboxylic aciduria metabolic 9691089 11286380 11441142 15669684 16146704
CPT1A 255120 Organic-acids-abnormal dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; 3 hydroxy sebacic aciduria; dodecenedioic aciduria; decadienedioic aciduria; decenedioic aciduria; 3 hydroxy dodecenedioic aciduria; 3 OH glutaric aciduria; ketonuria metabolic 9691089 11286380 11441142 15669684 16146704
CPT2 600649 Dicarboxylic-aciduria dicarboxylic acids elevated; saturated and unsaturated dicarboxylic acids elevated metabolic 8682496 9600456 11389301
CPT2 600649 Organic-acids-abnormal dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; lactic aciduria; pyruvic aciduria metabolic 8682496 #9600456 11389301
DGUOK 251880 Dicarboxylic-aciduria dicarboxylic acids elevated; multiple dicarboxylic acids elevated metabolic 12205643 15883261
DGUOK 251880 Organic-acids-abnormal lactic aciduria; dicarboxylic aciduria metabolic 12205643 15883261 #15887277 16263314
ETFA 231680 Dicarboxylic-aciduria metabolic 16510302
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 Dicarboxylic-aciduria dicarboxylic acids elevated metabolic 12706375 16510302
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 Dicarboxylic-aciduria dicarboxylic acids elevated metabolic 10356148 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
HADH 231530 Dicarboxylic-aciduria dicarboxylic acids elevated; medium chain dicarboxylic aciduria; 3 hydroxy dicarboxylic aciduria metabolic 10347277 16725361
HADH 231530 Organic-acids-abnormal 3 hydroxybutyrate elevated; 3 hydroxyglutarate elevated; 3 4 dihydroxybutyrate elevated; 3 hydroxydicarbonylic acids elevated; 3 hydroxydicarboxylic aciduria; dicarboxylic aciduria metabolic 10347277 11489939 16176262 16725361
HADHA 609015 Dicarboxylic-aciduria metabolic 7738175 8865274 11855930
HADHA 609015 Organic-acids-abnormal lactic aciduria; dicarboxylic aciduria; 3 hydroxydicarboxylic aciduria metabolic 7738175 8865274 10400133 11855930 12838198
HADHA 609016 Dicarboxylic-aciduria dicarboxylic acids elevated; hydroxy dicarboxylic aciduria; adipic aciduria metabolic 8094173 8736409 8931405 9003853 11855930
HADHA 609016 Organic-acids-abnormal 3 hydroxyacyldicarboxylic aciduria; dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; 3 hydroxylated sebacic aciduria; dodecanedioic aciduria; tetradecanedioic aciduria; 4 hydroxyphenyllactate elevated; hydroxyphenylpyruvate elevated; urinary protein metabolic 7846063 8094173 8736409 8931405 9003853 11855930 12162610 14605499
HADHB 609015 Dicarboxylic-aciduria dicarboxylic acids elevated metabolic 9305349 12838198 15902556 16423905
HADHB 609015 Organic-acids-abnormal lactic aciduria; dicarboxylic aciduria; 3 hydroxydicarboxylic aciduria metabolic 9305349 12838198 15902556 16423905
HMGCL 246450 Organic-acids-abnormal 3 hydroxy 3 methylglutaric aciduria; 3 methylglutaric aciduria; 3 methylglutaconic aciduria; 3 hydroxyisovaleric aciduria; glutaric aciduria; dicarboxylic aciduria metabolic 1886403 3128690 8440722 9439591 9463337 11461194 15308132
HMGCS2 605911 Dicarboxylic-aciduria metabolic 9727719 11479731 12072887 12647205
HMGCS2 605911 Organic-acids-abnormal short chain dicarboxylic aciduria; medium chain dicarboxylic aciduria; dicarboxylic aciduria metabolic 9727719 11228257 11479731 12072887 12647205
MLYCD 248360 Dicarboxylic-aciduria dicarboxylic acids elevated metabolic 3709568 9177981
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
NDUFS4 252010 Dicarboxylic-aciduria dicarboxylic acids elevated; 3 hydroxydicarboxylic aciduria metabolic 10944442
NDUFS4 252010 Organic-acids-abnormal lactic aciduria; dicarboxylic aciduria; 3 hydroxydicarboxylic aciduria; alpha ketoglutarate elevated; alpha ketoglutarate aciduria metabolic 10944442 14765537
OXCT1 245050 Organic-acids-abnormal dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; 3 hydroxyisovaleric aciduria; ketonuria; acetoacetate uria; 3 hydroxybutyrate uria metabolic 7474899 8803771 9392403 9521962 11757586 15496607
PCCB 606054 Dicarboxylic-aciduria dicarboxylic acids elevated metabolic 12409268
POLG 203700 Dicarboxylic-aciduria metabolic 15689359
SLC25A20 212138 Dicarboxylic-aciduria dicarboxylic acids elevated metabolic 9544911 9686371 10384385 10876004 11350184 12890396 15365988
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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