slc25a4 Phenotypes

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Phenotypes

Gene Literature (1)

Nucleotides (479)

Interactants (69)

XB-GENEPAGE-1001645

Gene Symbol: slc25a4 Gene Name: solute carrier family 25 member 4

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: slc25a4 assayed (4 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (106 sources): 3-Methylglutaconic aciduria, Abnormal electroretinogram, Abnormality of extrapyramidal motor function, Abnormality of eye movement, Abnormality of the liver, Abnormality of the mitochondrion, Absent Achilles reflex, Anxiety, Arrhythmia, Ataxia, Atrial fibrillation, Bipolar affective disorder, Bradykinesia, Cataract, Cerebellar atrophy, Cerebral visual impairment, Cognitive impairment, Cogwheel rigidity, Constipation, Corneal dystrophy, Cytochrome C oxidase-negative muscle fibers, Depression, Developmental cataract, Diabetes mellitus, Difficulty climbing stairs, Dilated cardiomyopathy, Dysarthria, Dysphagia, Easy fatigability, Edema, Elevated circulating creatine kinase concentration, Elevated circulating hepatic transaminase concentration, EMG: myopathic abnormalities, Exercise-induced lactic acidemia, Exercise intolerance, Exertional dyspnea, External ophthalmoplegia, Facial diplegia, Facial palsy, Failure to thrive, Fatigue, Focal white matter lesions, Frequent falls, Gait ataxia, Gait disturbance, Gastroesophageal reflux, Gastroparesis, Generalized hypotonia, Generalized muscle weakness, Glaucoma, Glucose intolerance, Goiter, Growth delay, Hearing impairment, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypomimic face, Hyporeflexia, Hypothyroidism, Hypotonia, Inability to walk, Increased circulating lactate concentration, Ketosis, Lactic acidosis, Left ventricular hypertrophy, Lethargy, Limb muscle weakness, Migraine, Mitochondrial myopathy, Motor delay, Multiple mitochondrial DNA deletions, Muscle spasm, Muscle weakness, Myalgia, Myopathy, Myopia, Nocturia, Nystagmus, Obesity, Ophthalmoparesis, Ophthalmoplegia, Organic aciduria, Osteoporosis, Palpitations, Peripheral axonal neuropathy, Peripheral neuropathy, Progressive external ophthalmoplegia, Ptosis, Quadriceps muscle weakness, Ragged-red muscle fibers, Reduced left ventricular ejection fraction, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Resting tremor, Rigidity, Seizure, Sensorineural hearing impairment, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spasticity, Strabismus, Subsarcolemmal accumulations of abnormally shaped mitochondria, Thrombocytopenia, Tremor, Ventricular arrhythmia, Visual impairment [+]
Mouse (17 sources): abnormal aerobic respiration, abnormal blood homeostasis, abnormal circulating alkaline phosphatase level, abnormal circulating calcium level, abnormal circulating iron level, abnormal exercise endurance, abnormal fasting circulating glucose level, abnormal heart weight, cardiac hypertrophy, decreased circulating iron level, fusion of vertebral arches, improved glucose tolerance, increased circulating alkaline phosphatase level, increased circulating lactate level, increased fasting circulating glucose level, increased heart weight, no abnormal phenotype detected [+]
View all ortholog results at Monarch