Mitochondria Phenome Knowledgebase

Gene Symbol AMACR
Ensembl ID ENSG00000082196 Entrez 23600
Gene Alias RACE Subcellular Locations Mitochondria Peroxisome
Map Position 5p13 Subcell PMIDs 7649182 10770938 11060359
OMIM Gene 604489 Protein Complex
Swissprot ID Q9UHK6 Swissprot Description Alpha-methylacyl-CoA racemase
OMIM Disease Prostate cancer [176807]; Alpha methylacyl CoA racemase deficiency (AMACRD) [604489]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AMACR 176807 Neoplasms oncologic #11956072 #15330799
AMACR 176807 Urogenital-neoplasms oncologic #11956072 #15330799
AMACR 176807 Prostatic-neoplasms biomarker; prostate cancer; prostate carcinogenesis oncologic 11956072 15330799
AMACR 604489 Digestive-system-diseases gastrointestinal #11861706 #15249642
AMACR 604489 Vomiting nausea; vomiting and nausea gastrointestinal 11861706 15249642
AMACR 604489 Respiratory-tract-diseases respiratory #15249642
AMACR 604489 Bronchial-diseases respiratory #15249642
AMACR 604489 Asthma respiratory 15249642
AMACR 604489 Nervous-system-diseases neurologic #10655068 #11861706 #15249642
AMACR 604489 Central-nervous-system-diseases neurologic #10655068 #11861706 #15249642
AMACR 604489 Brain-diseases neurologic #10655068 #11861706 #15249642
AMACR 604489 Encephalopathy metabolic encephalopathy neurologic 11861706 15249642
AMACR 604489 Seizures epilepsy; epileptic seizures; focal seizures; jerks; status epilepticus neurologic 10655068 11861706 15249642
AMACR 604489 Headache-disorders migraine; headache; encephalitic like illness neurologic 11861706 15249642
AMACR 604489 Leukoencephalopathy MRI findings; white matter abnormal; deep white matter changes neurologic 15249642
AMACR 604489 Cerebral-atrophy MRI findings neurologic 11861706
AMACR 604489 Electroencephalogram-abnormal excess slow activity; superimposed sharp frontoparietal delta activity; bihemispheric epileptiform discharges; generalised slowing; loss of alpha activity neurologic 11861706 15249642
AMACR 604489 Movement-disorders neurologic #15249642
AMACR 604489 Tremor upper limb tremor; head tremor; voice tremor; postural tremor; intention tremor neurologic 15249642
AMACR 604489 Spinal-cord-diseases adrenomyeloneuropathy; myelopathy neurologic 10655068
AMACR 604489 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; pons abnormal; basal ganglia abnormal; thalamus abnormal; cerebral peduncles abnormal; white matter abnormal; deep white matter changes neurologic 15249642
AMACR 604489 Axonal-degeneration lower extremities; upper extremities neurologic 10655068
AMACR 604489 Neurologic-manifestations neurologic #10655068 #11861706 #15249642
AMACR 604489 Neurobehavioral-manifestations neurologic #11861706 #15249642
AMACR 604489 Speech-disorders neurologic #15249642
AMACR 604489 Dysarthria cerebellar dysarthria neurologic 15249642
AMACR 604489 Consciousness-disorders confused; agitated; conscious level decreased; coma neurologic 11861706 15249642
AMACR 604489 Developmental-delay neurologic 10655068
AMACR 604489 Neuromuscular-manifestations neurologic #10655068
AMACR 604489 Muscle-spasticity spastic paraparesis neurologic 10655068
AMACR 604489 Paralysis-Paresis spastic paraparesis neurologic 10655068
AMACR 604489 Reflexes-abnormal neurologic #15249642
AMACR 604489 Hyperreflexia neurologic 15249642
AMACR 604489 Peripheral-nervous-system-diseases neurologic #10655068 #11861706
AMACR 604489 Polyneuropathies sensorimotor; axonal neuropathy; polyneuropathy; demyelinating sensory motor polyneuropathy; pin prick impaired; temperature sensitivity impaired; peripheral neuropathy neurologic 10655068 11861706
AMACR 604489 Eye-diseases ophthalmologic #10655068 #11861706 #15249642
AMACR 604489 Lens-diseases ophthalmologic #11861706 #15249642
AMACR 604489 Cataract early cataract; subcapsular lens opacities ophthalmologic 11861706 15249642
AMACR 604489 Optic-nerve-diseases optic atrophy; optic disk atrophy ophthalmologic 11861706 15249642
AMACR 604489 Papilledema papilloedema; bilateral papilloedema ophthalmologic 11861706
AMACR 604489 Retinal-diseases retinitis pigmentosa; pigmentary retinal changes; retinopathy ophthalmologic 10655068 11861706 15249642
AMACR 604489 Vision-disorders visual field restriction; visual acuity restriction; Perimetry abnormal; blindness; failing vision ophthalmologic 10655068 11861706 15249642
AMACR 604489 Night-blindness nocturnal visual difficulties ophthalmologic 15249642
AMACR 604489 Photophobia ophthalmologic 11861706
AMACR 604489 Electroretinography-abnormal marked reduction; bilateral; N95 components reduced ophthalmologic 15249642
AMACR 604489 Hematologic-diseases hematologic #11861706
AMACR 604489 Leukocyte-disorders hematologic #11861706
AMACR 604489 Leukocytosis neutrophil leucocytosis hematologic 11861706
AMACR 604489 Skin-diseases dermatologic #11861706
AMACR 604489 Gynecomastia male patient with gynaecomastia dermatologic 11861706
AMACR 604489 Hair-diseases dermatologic #11861706
AMACR 604489 Hypotrichosis sparse body hair dermatologic 11861706
AMACR 604489 Metabolic-diseases metabolic #10655068 #11861706 #15249642
AMACR 604489 Fatty-acids-abnormal elevated pristanic acid; elevated dihydroxycholestanoic acid; elevated trihydroxycholestanoic acid metabolic 10655068 11861706 15249642
AMACR 604489 Endocrine-system-diseases endocrinologic #10655068 #11861706
AMACR 604489 Gonadal-disorders endocrinologic #10655068 #11861706
AMACR 604489 Hypogonadism primary; genital defects; testes atrophy endocrinologic 10655068 11861706
AMACR 604489 Sex-differentiation-disorders feminine habitus; sparse body hair endocrinologic 11861706
AMACR 604489 Hypoandrogenism testosteron decreased; estradiol decreased; FSH elevated; LH elevated; primary gonadal failure endocrinologic 11861706
AMACR 604489 Thyroid-diseases endocrinologic #10655068
AMACR 604489 Hypothyroidism endocrinologic 10655068
AMACR 604489 Psychiatric-disorders psychiatric #11861706 #15249642
AMACR 604489 Mental-disorders psychiatric #11861706 #15249642
AMACR 604489 Mood-disorders psychiatric #11861706 #15249642
AMACR 604489 Depressive-disorder severe depression; episodes psychiatric 11861706 15249642
AMACR 604489 Exercise-intolerance was found to tire easily; heaviness of legs during exercise miscellaneous 10655068
AMACR 604489 Dysmorphism-and-abnormalities micrognathia; high arched palate miscellaneous 11861706

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