Mitochondria Phenome Knowledgebase

Phenotypic Feature Hydroxypropionic-aciduria finds 14 Gene-Feature associations that are associated with 9 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ALDH5A1 271980 Hydroxypropionic-aciduria 3 hydroxypropionic acids elevated metabolic 7726383 9093300
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 Hydroxypropionic-aciduria 3 hydroxypropionic acids elevated metabolic 3939535 7609453 10947204
ALDH6A1 603178 Organic-acids-abnormal methylmalonic aciduria; 3 hydroxypropionic aciduria; 3 aminoisobutyric aciduria; 3 hydroxyisobutyric aciduria metabolic #3939535 7609453 9787093 10947204
HLCS 253270 Hydroxypropionic-aciduria 3 hydroxypropionic acids elevated; 3 hydroxypropionate elevated metabolic 2515377 8319716 10234606 11185745 11735028 12633764
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
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
PCCA 606054 Hydroxypropionic-aciduria 3 hydroxypropionic acid elevated metabolic 15164333
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
PCCB 606054 Hydroxypropionic-aciduria 3 hydroxypropionic acid elevated metabolic 6820422 9461363 10488817 10910839 12409268
SLC25A20 212138 Hydroxypropionic-aciduria 3 hydroxypropionic 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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