Mitochondria Phenome Knowledgebase

Phenotypic Feature Methylglutaconic-aciduria finds 14 Gene-Feature associations that are associated with 8 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ATPAF2 604273 Methylglutaconic-aciduria increased urinary methylglutaconic acid metabolic 14757859
ATPAF2 604273 Organic-acids-abnormal lactic aciduria; elevated tricarboxylic acid cycle intermediates; methylglutaconic aciduria metabolic 14757859
AUH 250950 Methylglutaconic-aciduria 3 methylglutaconic acids elevated metabolic 3082934 6181239 9762598 10896289 12434311 12655555 15033206
AUH 250950 Organic-acids-abnormal 3 methylglutaconic aciduria; 3 methylglutaric aciduria; 3 hydroxyisovaleric aciduria metabolic #3082934 6181239 9762598 10896289 12434311 12655555 15033206
DNAJC19 608977 Methylglutaconic-aciduria 3 methylglutaconic acid elevated metabolic 16055927
DNAJC19 608977 Organic-acids-abnormal 3 methylglutaconic aciduria; 3 methylglutaric aciduria metabolic 16055927
HMGCL 246450 Methylglutaconic-aciduria 3 Methylglutaconic acid elevated metabolic 1886403 3128690 9439591 11461194 15308132
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 Methylglutaconic-aciduria 3 methylglutaconic acids elevated metabolic 11461195
OPA3 258501 Methylglutaconic-aciduria 3 methylglutaconic acid elevated metabolic 7510656 9097959 11668429 12126933 15342707 15902555
OPA3 258501 Organic-acids-abnormal 3 methylglutaconic aciduria; 3 methylglutaric aciduria metabolic 7510656 9097959 11668429 12126933 15342707 15902555
PCCB 606054 Methylglutaconic-aciduria methylglutaconic acid elevated metabolic 12409268
TAZ 300183 Methylglutaconic-aciduria 3 methylglutaconic aciduria; 3 methylglutaconic acid elevated metabolic 11238270
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
TAZ 302060 Methylglutaconic-aciduria 3 methylglutaconic aciduria; 3 methylglutoconate elevated metabolic 9345098 11238270 12032589 12529714 14654353 15098233

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