Mitochondria Phenome Knowledgebase

Gene Symbol ABAT
Ensembl ID ENSG00000183044 Entrez 18
Gene Alias GABA-AT; GABAT; NPD009 Subcellular Locations Mitochondria Mitochondrial-matrix
Map Position 16p13.2 Subcell PMIDs 9923979
OMIM Gene 137150 Protein Complex
Swissprot ID P80404 Swissprot Description "4-aminobutyrate aminotransferase, mitochondrial precursor"
OMIM Disease Deficiency of GABA transaminase [137150]; Susceptibility for autism [209850]

45 Gene-Feature associations for Gene ABAT

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABAT 137150 Aminoaciduria elevated histidine; elevated alanine metabolic 10407778
ABAT 137150 Brain-diseases neurologic #6148708 #9746906 #10407778
ABAT 137150 Central-nervous-system-diseases neurologic #6148708 #9746906 #10407778
ABAT 137150 Cerebellar-atrophy MRI findings; cerebellar hypoplasia; cerebellar atrophy neurologic 10407778
ABAT 137150 Corpus-callosum-hypoplasia MRI findings; corpus callosum agenesis neurologic 10407778
ABAT 137150 Cortical-dysplasia gyration abnormal; hemispheres neurologic 10407778
ABAT 137150 Developmental-delay psychomotor retardation neurologic 6148708 9746906 10407778
ABAT 137150 Diarrhea gastrointestinal 10407778
ABAT 137150 Digestive-system-diseases gastrointestinal #6148708 #10407778
ABAT 137150 Dysmorphism-and-abnormalities facial dysmorphism; retrognathia; down slanting eyes; lambdoid sutures miscellaneous 10407778
ABAT 137150 Electroencephalogram-abnormal burst suppression patterns neurologic 10407778
ABAT 137150 Eye-diseases ophthalmologic #10407778
ABAT 137150 Feeding-difficulties gastrointestinal 10407778
ABAT 137150 GABA-levels-abnormal GABA levels increased; gamma aminobutyric acid elevated; GABA conjugates elevated miscellaneous 9746906 10407778
ABAT 137150 Growth-accelerated growth hormone levels abnormal; plasma growth hormone levels increased miscellaneous 6148708 10407778
ABAT 137150 Growth-disorders miscellaneous #6148708 #10407778
ABAT 137150 Hyperbilirubinemia metabolic 10407778
ABAT 137150 Hyperreflexia clonus; deep tendon reflexes abnormal neurologic 6148708 9746906 10407778
ABAT 137150 Hyperventilation tachypnea respiratory 10407778
ABAT 137150 Immune-system-diseases immunologic #10407778
ABAT 137150 Infections otitis media immunologic 10407778
ABAT 137150 Irritability high pitched cry; crying; irritable neurologic 9746906 10407778
ABAT 137150 Lethargy neurologic 9746906 10407778
ABAT 137150 Leukoencephalopathy leukodystrophy neurologic 6148708
ABAT 137150 Liver-diseases gastrointestinal #6148708
ABAT 137150 Liver-enzymes-abnormal liver gamma aminobutyric acid transaminase deficient; liver GABA transaminase deficient gastrointestinal 6148708
ABAT 137150 Mental-retardation neurologic 6148708
ABAT 137150 Metabolic-diseases metabolic #6148708 #10407778
ABAT 137150 Muscle-hypotonia hypotonia neurologic 6148708 9746906 10407778
ABAT 137150 Myoclonus myoclonic jerks; head; arm; leg neurologic 10407778
ABAT 137150 Nervous-system-diseases neurologic #6148708 #9746906 #10407778
ABAT 137150 Neurobehavioral-manifestations neurologic #6148708 #9746906 #10407778
ABAT 137150 Neurologic-manifestations neurologic #6148708 #9746906 #10407778
ABAT 137150 Neuromuscular-manifestations neurologic #6148708 #9746906 #10407778
ABAT 137150 Organic-acids-abnormal gamma aminobutyric acid; homocarnosine metabolic 6148708
ABAT 137150 Pyramidal-tract-signs extensor plantar response; babinski sign neurologic 10407778
ABAT 137150 Reflexes-abnormal neurologic #6148708 #9746906 #10407778
ABAT 137150 Respiration-disorders respiratory #10407778
ABAT 137150 Respiratory-tract-diseases respiratory #10407778
ABAT 137150 Seizures convulsions; chewing movements; bicycling movements neurologic 9746906 10407778
ABAT 137150 Vision-disorders no response to light; non reactive pupils ophthalmologic 10407778
ABAT 209850 Autistic-disorder autism; susceptibility psychiatric 11481586 15689451 15830322
ABAT 209850 Behavioral-symptoms repetitive behavior; stereotyped behavior psychiatric 11481586 15689451 15830322
ABAT 209850 Developmental-delay language delay; neurodevelopmental disorder neurologic 11481586 15689451 15830322
ABAT 209850 Mental-disorders psychiatric #11481586 #15689451 #15830322
ABAT 209850 Nervous-system-diseases neurologic #11481586 #15689451 #15830322
ABAT 209850 Psychiatric-disorders psychiatric #11481586 #15689451 #15830322

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