Mitochondria Phenome Knowledgebase

Gene Symbol AASS
Ensembl ID ENSG00000008311 Entrez 10157
Gene Alias LKR/SDH; LKRSDH; LORSDH Subcellular Locations Mitochondria
Map Position 7q31.3 Subcell PMIDs 10775527
OMIM Gene 605113 Protein Complex
Swissprot ID Q9UDR5 Swissprot Description "Alpha-aminoadipic semialdehyde synthase, mitochondrial precursor (LKR/SDH)"
OMIM Disease Hyperlysinemia [238700]; Saccharopinuria [268700]

29 Gene-Feature associations for Gene AASS

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 238700 Alkaline-phosphatase-abnormal elevated miscellaneous 6015890
AASS 238700 Aminoacid-levels-abnormal elevated lysine; elevated arginine; CSF; blood; hyperlysinemia metabolic 5796356 6015890 10775527
AASS 238700 Aminoaciduria lysinuria; argininuria; cystinuria; ornithinuria; saccharopinuria metabolic 5796356 6015890 10775527
AASS 238700 Brain-diseases neurologic #6015890
AASS 238700 Central-nervous-system-diseases neurologic #6015890
AASS 238700 Consciousness-disorders coma neurologic 6015890
AASS 238700 Dehydration metabolic 6015890
AASS 238700 Developmental-delay psychomotor delay neurologic 6015890
AASS 238700 Digestive-system-diseases gastrointestinal #6015890
AASS 238700 Electroencephalogram-abnormal diffuse neurologic 6015890
AASS 238700 Fatty-liver Histology findings; slight; hepatic fatty infiltration gastrointestinal 6015890
AASS 238700 Feeding-difficulties gastrointestinal 6015890
AASS 238700 Growth-deficiency miscellaneous 6015890
AASS 238700 Growth-disorders miscellaneous #6015890
AASS 238700 Hyperammonemia ammonia levels elevated metabolic 6015890
AASS 238700 Lethargy apathy neurologic 6015890
AASS 238700 Liver-diseases gastrointestinal #6015890
AASS 238700 Liver-enzymes-abnormal ALT elevated gastrointestinal 6015890
AASS 238700 Mental-retardation mentally slow neurologic 5796356
AASS 238700 Metabolic-diseases metabolic #5796356 #6015890 #10775527
AASS 238700 Muscle-hypertonia neurologic 6015890
AASS 238700 Nervous-system-diseases neurologic #5796356 #6015890
AASS 238700 Neurobehavioral-manifestations neurologic #5796356 #6015890
AASS 238700 Neurologic-manifestations neurologic #5796356 #6015890
AASS 238700 Neuromuscular-manifestations neurologic #6015890
AASS 238700 Vomiting gastrointestinal 6015890
AASS 238700 Water-electrolyte-imbalance metabolic #6015890
AASS 268700 Aminoaciduria lysinuria; citrullinuria; histidinuria; saccharopinuria metabolic 5018656 5690339
AASS 268700 Brain-diseases neurologic #5690339
AASS 268700 Central-nervous-system-diseases neurologic #5690339
AASS 268700 Electroencephalogram-abnormal neurologic 5690339
AASS 268700 Growth-deficiency short stature miscellaneous 5690339
AASS 268700 Growth-disorders miscellaneous #5690339
AASS 268700 Mental-retardation moderately neurologic 5690339
AASS 268700 Metabolic-diseases metabolic #5018656 #5690339
AASS 268700 Muscle-spasticity spastic diplegia neurologic 5018656
AASS 268700 Nervous-system-diseases neurologic #5018656 #5690339
AASS 268700 Neurobehavioral-manifestations neurologic #5690339
AASS 268700 Neurologic-manifestations neurologic #5018656 #5690339
AASS 268700 Neuromuscular-manifestations neurologic #5018656
AASS 268700 Paralysis-Paresis spastic diplegia neurologic 5018656

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