Human (115 sources):
Abnormal chorioretinal morphology,
Abnormal electroretinogram,
Abnormality of metabolism/homeostasis,
Abnormality of retinal pigmentation,
Abnormality of the amniotic fluid,
Anteriorly placed anus,
Areflexia,
Arrhythmia,
Atrial septal defect,
Atrioventricular block,
Babinski sign,
Cardiomyopathy,
Cholestasis,
Cholestatic liver disease,
Chorioretinal atrophy,
Chronic hepatic failure,
Coma,
Congestive heart failure,
Decreased 3-hydroxyacyl-CoA dehydrogenase level,
Decreased patellar reflex,
Decreased plasma carnitine,
Dicarboxylic aciduria,
Difficulty climbing stairs,
Diffuse hepatic steatosis,
Dilated cardiomyopathy,
Distal peripheral sensory neuropathy,
Elevated hepatic transaminase,
Elevated serum creatine kinase,
Enlarged cisterna magna,
Episodic tachypnea,
Equinovarus deformity,
Equinus calcaneus,
Exercise intolerance,
Exercise-induced myalgia,
Exercise-induced myoglobinuria,
Exercise-induced rhabdomyolysis,
Exotropia,
Failure to thrive,
Failure to thrive in infancy,
Feeding difficulties,
Feeding difficulties in infancy,
Frequent falls,
Generalized hypotonia,
Generalized muscle weakness,
Global developmental delay,
Hepatic steatosis,
Hepatocellular necrosis,
Hepatomegaly,
Hydrops fetalis,
Hyperammonemia,
Hypertrophic cardiomyopathy,
Hypocalcemia,
Hypoglycemia,
Hypoketotic hypoglycemia,
Hypoparathyroidism,
Hypoproteinemia,
Hypothermia,
Increased circulating free fatty acid level,
Infantile muscular hypotonia,
Inflammatory abnormality of the skin,
Intellectual disability,
Jaundice,
Lactic acidosis,
Left ventricular hypertrophy,
Lethargy,
Lower limb muscle weakness,
Macrocephaly,
Metabolic acidosis,
Mitral regurgitation,
Motor delay,
Muscle spasm,
Muscle stiffness,
Muscle weakness,
Muscular hypotonia,
Myalgia,
Myoglobinuria,
Myopathy,
Myopia,
Nonketotic hypoglycemia,
Nyctalopia,
Obesity,
Overweight,
Pain,
Patent foramen ovale,
Pericardial effusion,
Peripheral neuropathy,
Pes cavus,
Photophobia,
Pigmentary retinopathy,
Pneumonia,
Poor suck,
Posterior staphyloma,
Prenatal maternal abnormality,
Primitive reflex,
Progressive distal muscle weakness,
Prolonged QT interval,
Respiratory distress,
Respiratory insufficiency,
Retinopathy,
Rhabdomyolysis,
Rigors,
Seizure,
Sensorimotor neuropathy,
Skeletal myopathy,
Small for gestational age,
Sudden cardiac death,
Tachycardia,
Tachypnea,
Toe walking,
Tricuspid regurgitation,
Ventricular fibrillation,
Ventricular septal defect,
Ventricular tachycardia,
Visual loss,
Vomiting
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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.