Mitochondria Phenome Knowledgebase

Phenotypic Feature Organic-acids-abnormal finds 69 Gene-Feature associations that are associated with 69 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABAT 137150 Organic-acids-abnormal gamma aminobutyric acid; homocarnosine metabolic 6148708
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 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 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
ACADSB 610006 Organic-acids-abnormal 2 metylbutyrylglycine elevated; 2 ethylhydracrylic aciduria; 2 methylbutyrylglycinuria metabolic 10832746 15615815 16317551
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 Organic-acids-abnormal tiglylglycine uria; 2 methyl 3 hydroxybutyric aciduria; 2 methylacetoacetic aciduria; elevated 2 butanone; 2 methylglutaconate elevated metabolic 1346617 1349518 7173255 8103405 8930414 10604145 11161836 11914035 12754704 15877211
AGXT 259900 Organic-acids-abnormal glycolic aciduria; hyperglycolic aciduria; hyper excretion of glycolic acid; hyperexcretion of oxalic acid metabolic 9192270 11562405 15253729 15365967 15603729
ALDH4A1 239510 Organic-acids-abnormal elevated pyrroline 5 carboxylate; pyrrole 2 carboxylic aciduria; hydroxyprolinuria; prolinuria metabolic 837521 2383933 4825691 15214748
ALDH5A1 271980 Organic-acids-abnormal "4 hydroxybutyric aciduria; 3 hydroxypropionic aciduria; 3,4 dihydroxybutyric aciduria; glycolicaciduria; 4,5 dihydroxyhexanoic aciduria; gamma hydroxybutyric aciduria" metabolic 7726383 8803774 9093300 9266358 9683595 10234622 11901270 12743223 14512218 15037717 15059623 15287248
ALDH6A1 603178 Organic-acids-abnormal methylmalonic aciduria; 3 hydroxypropionic aciduria; 3 aminoisobutyric aciduria; 3 hydroxyisobutyric aciduria metabolic #3939535 7609453 9787093 10947204
ATPAF2 604273 Organic-acids-abnormal lactic aciduria; elevated tricarboxylic acid cycle intermediates; methylglutaconic aciduria metabolic 14757859
AUH 250950 Organic-acids-abnormal 3 methylglutaconic aciduria; 3 methylglutaric aciduria; 3 hydroxyisovaleric aciduria metabolic #3082934 6181239 9762598 10896289 12434311 12655555 15033206
BCKDHA 248600 Organic-acids-abnormal 2 oxoisocaproic aciduria; 2 oxo 3 methylvaleric aciduria; 2 oxoisovaleric aciduria; 2 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 2 hydroxy 3 methylvaleric aciduria; branched chain ketoaciduria; 2 oxo aciduria; positive urinary DNPH reaction metabolic 7707687 12118532 14567968 14742428 16601891
BCKDHB 248600 Organic-acids-abnormal 2 oxoisocaproic aciduria; 2 oxo 3 methylvaleric aciduria; 2 oxoisovaleric aciduria; 2 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 2 hydroxy 3 methyvaleric aciduria; 2 oxo aciduria metabolic 7707687 11448970 14567968 14742428
BCS1L 124000 Organic-acids-abnormal lactic aciduria; glyceroluria; elevated tricarboxylic acid cycle intermediates; fumaric aciduria; acetone elevated metabolic 11528392 12910490
BCS1L 603358 Organic-acids-abnormal lactic aciduria; increased excretion of lactate; increased excretion of hydroxyphenyl lactate; increased excretion of pyruvate; elevated tricarboxylic acid cycle intermediates metabolic 7577396 9482441 12027811
COX10 220110 Organic-acids-abnormal lactic aciduria; elevated tricarboxylic acid cycle intermediates metabolic 10767350 15455402
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 Organic-acids-abnormal dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; lactic aciduria; pyruvic aciduria metabolic 8682496 #9600456 11389301
DBT 248600 Organic-acids-abnormal 2 oxoisocaproic aciduria; 2 oxo 3 methylvaleric aciduria; 2 oxoisovaleric aciduria; 2 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 2 hydroxy 3 methyvaleric aciduria; branched chain ketoaciduria metabolic 9239422 12118532 14567968 14742428
DGUOK 251880 Organic-acids-abnormal lactic aciduria; dicarboxylic aciduria metabolic 12205643 15883261 #15887277 16263314
DLD 248600 Organic-acids-abnormal 2 oxoisocaproic aciduria; 2 oxo 3 methylvaleric aciduria; 2 oxoisovaleric aciduria; 2 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 2 hydroxy 3 methyvaleric aciduria; lactic aciduria; elevated tricarboxylic acid cycle intermediates metabolic 413089 3769994 6418873 6897145 8506365 8968745 9540846 9934985 10448086 11687750 12925875 14765544 15712224
DLST 203740 Organic-acids-abnormal metabolic #7075624 #8295396 #10774994
DNAJC19 608977 Organic-acids-abnormal 3 methylglutaconic aciduria; 3 methylglutaric aciduria metabolic 16055927
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 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 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
FH 606812 Organic-acids-abnormal lactic aciduria; fumaric aciduria; elevated tricarboxylic acid cycle intermediates metabolic 1432428 2515378 8200987 15221078 16151915
GCDH 231670 Organic-acids-abnormal glutaric aciduria; 3 hydroxyglutaric aciduria; glutaconic aciduria; elevated glutarylcarnitine metabolic 1137568 7795610 9856558 10407775 10699052 10960496 #11020111 11058907 11174631 11825066 #12473778 12888985 15985591 16377226
GK 307030 Organic-acids-abnormal ketonuria; glyceroluria; massive glyceroluria; hyperglyceroluria metabolic 9719371 #10736265 10851254 11479736 12636049 15026783 15303806 #16025401
GLUD1 606762 Organic-acids-abnormal alpha ketoglutarate aciduria; urinary ketoglutarate metabolic 11518822 14967154
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 Organic-acids-abnormal lactic aciduria; dicarboxylic aciduria; 3 hydroxydicarboxylic aciduria metabolic 7738175 8865274 10400133 11855930 12838198
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 Organic-acids-abnormal lactic aciduria; dicarboxylic aciduria; 3 hydroxydicarboxylic aciduria metabolic 9305349 12838198 15902556 16423905
HLCS 253270 Organic-acids-abnormal lactic aciduria; beta hydroxyisovalerate aciduria; beta methylcrotonylglycine aciduria; hydroxypropionate aciduria; methylcitrate aciduria; tiglylglycine uria metabolic 2515377 8319716 8541348 9686819 10190325 10234606 10653324 10770035 11185745 11735028 12124727 12633764 12855220 16134170
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 Organic-acids-abnormal short chain dicarboxylic aciduria; medium chain dicarboxylic aciduria; dicarboxylic aciduria metabolic 9727719 11228257 11479731 12072887 12647205
HSD17B10 300438 Organic-acids-abnormal 2 methyl 3 hydroxybutyrate uria; tiglylglycine uria; 2 ethylhydracrylic aciduria; ketonuria; lactic aciduria; normal 2 methylacetoacetate metabolic 11102558 12112118 12555940 12696021 14729408 15059617 16148061
IVD 243500 Organic-acids-abnormal isovalerylglycinuria; 3 hydroxyisovalericaciduria; isovaleric aciduria; 4 isovaleric aciduria; methylsuccinic aciduria; isovalerylasparagine uria; isovalerylhistidine uria; isovaleryllysine uria; isovaleryltryptophan uria; acetyltryptophan uria; isovaleryl conjugates; acetyl amino conjugates; organic acidemia metabolic #2124776 8765634 8830183 9673537 10191353 10677295 #12911192 15486829 16040844 16602101
MCCC1 210200 Organic-acids-abnormal 3 methylcrotonyl glycinuria; 3 hydroxyisovaleric aciduria; ketonuria; 3 hydroxybutyric aciduria metabolic 2738779 10485305 11170888 11181649 11406611 11893004 15359379 15868465 16010683
MCCC2 210210 Organic-acids-abnormal 3 methylcrotonyl glycinuria; 3 hydroxyisovaleric aciduria; lactic aciduria; 3 hydroxybutyric aciduria metabolic 1293382 7128647 8831079 9537490 9544913 11170888 11181649 11406611 15877210 16010683
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 Organic-acids-abnormal methymalonic aciduria; 3 hydroxypropionic aciduria; methylcitric aciduria metabolic 6132336 12438653 15308131 15523652
MMAB 251110 Organic-acids-abnormal methymalonic aciduria; 3 hydroxypropionic aciduria; methylcitric aciduria metabolic 6132336 7213387 16410054
MTRR 236270 Organic-acids-abnormal methymalonic aciduria; hyperhomocysteinemia metabolic 10484769
MUT 251000 Organic-acids-abnormal methymalonic aciduria; 3 hydroxypropionic aciduria; methylcitric aciduria; acetoacetate elevated; beta hydroxybutyrate uria metabolic 1346616 1977311 10893496 11161845 11350191 #11528502 12118529 12402345 12948746 15643616 15781199 16186538 16281286 16435223 16451139
NDUFS4 252010 Organic-acids-abnormal lactic aciduria; dicarboxylic aciduria; 3 hydroxydicarboxylic aciduria; alpha ketoglutarate elevated; alpha ketoglutarate aciduria metabolic 10944442 14765537
OAT 258870 Organic-acids-abnormal oroticaciduria; urine orotic acid elevated; homocitrullinuria metabolic 8295414 16151897
OGDH 203740 Organic-acids-abnormal metabolic #7075624 #10774994
OPA3 258501 Organic-acids-abnormal 3 methylglutaconic aciduria; 3 methylglutaric aciduria metabolic 7510656 9097959 11668429 12126933 15342707 15902555
OTC 311250 Organic-acids-abnormal oroticaciduria; uraciluria metabolic 2347583 #3508674 8732901 8829665 9056557 11260212 12083811 12647200 15174800 15243986 15578616
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
PC 266150 Organic-acids-abnormal lactic aciduria; 3 hydroxybutyric aciduria; acetoacetic aciduria; p hydroxybenzaldehyde elevated metabolic 6422151 7503391 7720232 9585002 15781190 16278852
PCCA 606054 Organic-acids-abnormal lactic aciduria; propionic aciduria; methycitric aciduria; beta hydroxypropionic aciduria; tiglic aciduria; tiglyl glycinuria; 3 OH isovaleric acid uria; propionic acidemia metabolic 6790853 7494403 9385377 9887338 10101253 12559849 13693094 15164333 15614906
PCCB 606054 Organic-acids-abnormal lactic aciduria; propionic aciduria; methycitric aciduria; beta hydroxypropionic aciduria; tiglic aciduria; tiglyl glycinuria; 3 hydroxypropionic acid elevated; propionic acidemia metabolic 6820422 9461363 9683601 10488817 #10910839 12409268 12559849 15614906
PDHA1 312170 Organic-acids-abnormal metabolic #10486093
PDHX 245349 Organic-acids-abnormal lactic aciduria; pyruvate elevated; alpha ketoglutarate elevated metabolic 8584393 15303005
POLG 203700 Organic-acids-abnormal metabolic 15689359
SCO1 220110 Organic-acids-abnormal lactic aciduria; elevated tricarboxylic acid cycle intermediates metabolic 11013136
SDHA 252011 Organic-acids-abnormal lactic aciduria; ketonuria; elevated tricarboxylic acid cycle intermediates metabolic 12794685
SLC25A13 605814 Organic-acids-abnormal hydroxyphenyllactic aciduria; hydroxyphenylpyruvic aciduria metabolic 11281457 12424587
SLC25A15 238970 Organic-acids-abnormal oroticaciduria; 2 hydroxybutyric acid; 3 hydroxybutyric acid; TCA intermediates; glutaric acid elevated metabolic #9329423 11552031 11814739 14759633
SLC25A19 607196 Organic-acids-abnormal lactic aciduria; 2 oxoglutaric aciduria; alpha ketoglutarate elevated metabolic 12185364 12376931
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
SURF1 220110 Organic-acids-abnormal elevated tricarboxylic acid cycle intermediates; 2 oxoglutaric aciduria; glutaric aciduria; 2 hydroxyglutaric aciduria metabolic 15214016
TAT 276600 Organic-acids-abnormal 4 hydroxyphenylpyruvic aciduria; 4 hydroxyphenyllactic aciduria; 4 hydroxyphenylacetic aciduria; PHPLA; PHPPA metabolic 11589874 16318910 16574453
TAZ 300183 Organic-acids-abnormal 3 methylglutaconic aciduria; 3 methylglutaconic acid elevated metabolic 11238270
TAZ 302060 Organic-acids-abnormal lactic aciduria; 3 methylglutaconic aciduria; 3 methylglutaric aciduria; 2 ethylhydracrylic aciduria metabolic 8739954 9345098 9382096 10484795 11238270 12032589 12529714 14654353 15098233 16235007
TK2 609560 Organic-acids-abnormal nonspecific organic aciduria metabolic 12391347

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