Mitochondria Phenome Knowledgebase

Phenotypic Feature Glutaric-aciduria finds 26 Gene-Feature associations that are associated with 18 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AUH 250950 Organic-acids-abnormal 3 methylglutaconic aciduria; 3 methylglutaric aciduria; 3 hydroxyisovaleric aciduria metabolic #3082934 6181239 9762598 10896289 12434311 12655555 15033206
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
DLD 248600 TCA-intermediates-elevated tricarboxylic acid cycle intermediates elevated; alpha ketoglutarate elevated; alpha ketoglutaric aciduria metabolic 413089 3769994 6897145 8968745 11687750 12925875 15712224
DLST 203740 TCA-intermediates-elevated 2 oxoglutaric aciduria metabolic 7075624 8295396 10774994
DNAJC19 608977 Organic-acids-abnormal 3 methylglutaconic aciduria; 3 methylglutaric aciduria metabolic 16055927
ETFA 231680 Glutaric-aciduria glutaric acid elevated; glutaric acidemia 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 Glutaric-aciduria glutaric acid elevated; glutaric acidemia 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 Glutaric-aciduria glutaric acid elevated; glutaric acidemia metabolic 10356148 12359134 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
GCDH 231670 Glutaric-aciduria glutaric acidemia metabolic 1137568 7795610 9856558 10407775 10699052 10960496 11020111 11058907 11174631 11825066 12473778 12888985 15985591 16377226
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
HADH 231530 Glutaric-aciduria metabolic 16725361
HMGCL 246450 Glutaric-aciduria glutaric acid elevated metabolic 9439591
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
MLYCD 248360 Glutaric-aciduria 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
OGDH 203740 TCA-intermediates-elevated 2 oxoglutaric aciduria metabolic 7075624 10774994
OPA3 258501 Organic-acids-abnormal 3 methylglutaconic aciduria; 3 methylglutaric aciduria metabolic 7510656 9097959 11668429 12126933 15342707 15902555
SLC25A15 238970 Glutaric-aciduria glutarate elevated; glutaric acid elevated metabolic 14759633
SLC25A19 607196 Organic-acids-abnormal lactic aciduria; 2 oxoglutaric aciduria; alpha ketoglutarate elevated metabolic 12185364 12376931
SURF1 220110 Glutaric-aciduria glutaric aciduria; 2 hydroxyglutaric aciduria metabolic 15214016
SURF1 220110 Organic-acids-abnormal elevated tricarboxylic acid cycle intermediates; 2 oxoglutaric aciduria; glutaric aciduria; 2 hydroxyglutaric aciduria metabolic 15214016
SURF1 220110 TCA-intermediates-elevated elevated tricarboxylic acid cycle intermediates; 2 oxoglutaric aciduria metabolic 15214016
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

©2006-2009 Stanford Genome Technology Center, Stanford University | Webmastercreative commons