Mitochondria Phenome Knowledgebase

Gene Symbol AGXT
Ensembl ID ENSG00000172482 Entrez 189
Gene Alias AGT; AGT1; AGXT1; PH1; SPAT; SPT; TLH6 Subcellular Locations Mitochondria Mitochondrial-matrix Peroxisome
Map Position 2q36-q37 Subcell PMIDs 1703535
OMIM Gene 604285 Protein Complex
Swissprot ID P21549 Swissprot Description Serine-pyruvate aminotransferase
OMIM Disease Primary hyperoxaluria type I (PH I) [259900]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AGXT 259900 Musculoskeletal-diseases bone deformities; skeletal abnormalities musculoskeletal #6829606 #9831280 11682674
AGXT 259900 Bone-diseases musculoskeletal #6829606 #11682674
AGXT 259900 Osteochondrodysplasias musculoskeletal #11682674
AGXT 259900 Osteosclerosis sclerosis of the adjacent diaphysis musculoskeletal 11682674
AGXT 259900 Metabolic-bone-diseases osteopenia musculoskeletal 11682674
AGXT 259900 Pathological-fractures pathologic fractures; bone oxalosis; bone mineral density increased; intertrochanteric fractures; femoral neck fracture musculoskeletal 6829606 11682674
AGXT 259900 Joint-diseases musculoskeletal #9831280
AGXT 259900 Arthritis musculoskeletal 9831280
AGXT 259900 Muscular-diseases myopathy; muscle biopsy findings; calcium oxalate crystals; inflammatory infiltrates musculoskeletal 9831280
AGXT 259900 Digestive-system-diseases gastrointestinal #10586179 #15356974
AGXT 259900 Diarrhea gastrointestinal 10586179
AGXT 259900 Vomiting nausea gastrointestinal 10586179 15356974
AGXT 259900 Respiratory-tract-diseases respiratory #6829606 #10586179
AGXT 259900 Respiration-disorders respiratory distress; shortness of breath respiratory 6829606 10586179
AGXT 259900 Nervous-system-diseases neurologic #9831280 #10586179 #14657686
AGXT 259900 Central-nervous-system-diseases neurologic #10586179
AGXT 259900 Brain-diseases neurologic #10586179
AGXT 259900 Seizures seizures; convulsions neurologic 10586179
AGXT 259900 Developmental-delay neurologic 14657686
AGXT 259900 Peripheral-nervous-system-diseases neurologic #9831280
AGXT 259900 Polyneuropathies ischaemic neuropathy neurologic 9831280
AGXT 259900 Eye-diseases ophthalmologic #2297338 #15580002
AGXT 259900 Optic-nerve-diseases optic disc pallor; optic nerve dysfunction ophthalmologic 2297338 15580002
AGXT 259900 Retinal-diseases bilateral; symmetric; crystalline; oxalate retinopathy; maculopathy; crystalline deposits; intraretinal hemorrhages; retinal oxalate deposits ophthalmologic 2297338 15580002
AGXT 259900 Vision-disorders visual impairment; vision loss ophthalmologic 2297338 15580002
AGXT 259900 Genitourinary-diseases genitourinary #6770732 #6829606 #9192270 #9831280 #10586179 #11562405 #11682674 #12768081 #14657686 #15253729 #15327387 #15356974 #15365967 #15580002 #15603729
AGXT 259900 Urologic-diseases genitourinary #6770732 #6829606 #9192270 #9831280 #10586179 #11562405 #11682674 #12768081 #14657686 #15253729 #15327387 #15356974 #15365967 #15580002 #15603729
AGXT 259900 Hematuria macrohematuria genitourinary 6770732 6829606 10586179
AGXT 259900 Kidney-diseases genitourinary #6770732 #6829606 #9192270 #9831280 #10586179 #11562405 #11682674 #12768081 #14657686 #15253729 #15327387 #15356974 #15365967 #15580002 #15603729
AGXT 259900 Nephritis pyelonephritis; infections; uremia; tubulo interstitial nephritis genitourinary 10586179 15327387 15356974
AGXT 259900 Nephrocalcinosis calcium oxalate urolithiasis; nephrolithiasis; urolithiasis; urinary calculi; renal stones; episodes; recurrent; kidney calcification genitourinary 6770732 6829606 9192270 9831280 11562405 11682674 12768081 14657686 15253729 15327387 15356974 15365967 15580002 15603729
AGXT 259900 Renal-insufficiency renal failure; uremia; polyuria; end stage renal disease; end stage renal failure; acute kidney failure; renal colic; proteinuria; anuria genitourinary 6770732 6829606 9192270 9831280 10586179 11562405 11682674 12768081 14657686 15253729 15327387 15356974 15365967 15580002 15603729
AGXT 259900 Creatinine-levels-abnormal creatinine elevated; kidney dysfunction related genitourinary 6770732 6829606 11682674 14657686 15356974 15603729
AGXT 259900 Uremia urea levels abnormal; blood urea elevated; uremic symptoms genitourinary 6770732 6829606 10586179 11682674 12768081 15356974 15603729
AGXT 259900 Cardiovascular-diseases cardiovascular #5572669 #6770732 #15356974 #15580002
AGXT 259900 Heart-diseases cardiovascular #5572669 #15356974
AGXT 259900 Arrhythmia heart block; oxalate related; conduction impairment; atrial fibrillations; bradycardia cardiovascular 5572669 15356974
AGXT 259900 Vascular-diseases cardiovascular #5572669 #6770732 #15580002
AGXT 259900 Peripheral-vascular-diseases peripheral vascular insufficiency; arterial occlusion; arterial spasms; intermittent claudication; raynaud phenomenon; gangrene; acrocyanosis; hemodynamic abnormal; carotid stenosis; carotid ultrasound findings cardiovascular 5572669 6770732 15580002
AGXT 259900 Hematologic-diseases hematologic #6829606 #10586179 #15327387
AGXT 259900 Anemia hematologic 10586179
AGXT 259900 Hemoglobin-levels-abnormal hemoglobin deficiency hematologic 6829606
AGXT 259900 Pancytopenia hematologic 15327387
AGXT 259900 Skin-diseases livedo reticularis dermatologic 5572669 6770732 #6829606
AGXT 259900 Paleness pallor dermatologic 6770732 6829606
AGXT 259900 Metabolic-diseases metabolic #2297338 #3974685 #5572669 #6770732 #6829606 #9192270 #9831280 #10586179 #11562405 #11682674 #12768081 #14657686 #15253729 #15327387 #15356974 #15365967 #15580002 #15603729
AGXT 259900 Acid-base-imbalance metabolic #10586179 #15327387
AGXT 259900 Acidosis metabolic acidosis metabolic 10586179 15327387
AGXT 259900 Hyperoxaluria oxalic aciduria; hyperexcretion of oxalic acid; calcium oxalate crystals in urine; serum oxalate elevated; oxalosis metabolic 2297338 3974685 5572669 6770732 9192270 9831280 10586179 11562405 11682674 12768081 14657686 15253729 15327387 15356974 15365967 15580002 15603729
AGXT 259900 Phosphorus-metabolism-disorders metabolic #6829606
AGXT 259900 Hyperphosphatemia metabolic 6829606
AGXT 259900 Water-electrolyte-imbalance metabolic #6770732 #6829606 #10586179
AGXT 259900 Dehydration metabolic 10586179
AGXT 259900 Hypercalcemia metabolic 6829606
AGXT 259900 Hyponatremia sodium levels decreased metabolic 6770732
AGXT 259900 Organic-acids-abnormal glycolic aciduria; hyperglycolic aciduria; hyper excretion of glycolic acid; hyperexcretion of oxalic acid metabolic 9192270 11562405 15253729 15365967 15603729
AGXT 259900 Immune-system-diseases immunologic #6770732 #10586179 #12768081 #15327387 #15580002
AGXT 259900 Infections urinary tract infections immunologic 6770732 10586179 12768081 15327387 15580002
AGXT 259900 Body-temperature-changes miscellaneous #10586179
AGXT 259900 Fever miscellaneous 10586179
AGXT 259900 Cachexia weight loss; anorexia miscellaneous 6829606 15356974
AGXT 259900 Growth-disorders miscellaneous #6829606 #10586179 #12768081 #14657686
AGXT 259900 Failure-to-thrive miscellaneous 10586179 12768081
AGXT 259900 Growth-deficiency growth failure; shortness of stature miscellaneous 6829606 14657686
AGXT 259900 Vitamin-responsive pyridoxine; vitamin B6 miscellaneous 3974685 11562405 12768081 15253729 15365967

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