Human (72 sources):
Abdominal pain,
Abnormal pyramidal sign,
Anxiety,
Aortic valve stenosis,
Arrhythmia,
Ataxia,
Atonic seizure,
Atypical absence seizure,
Atypical absence status epilepticus,
Autistic behavior,
Behavioral abnormality,
Bilateral tonic-clonic seizure,
Bilateral tonic-clonic seizure with focal onset,
Bradykinesia,
Bundle branch block,
Cardiac arrest,
Cerebral atrophy,
Cerebral visual impairment,
Cognitive impairment,
Congestive heart failure,
Cortical dysplasia,
Cutaneous photosensitivity,
Developmental regression,
Developmental stagnation,
Dyspnea,
EEG abnormality,
EEG with spike-wave complexes,
Epileptic encephalopathy,
Febrile seizure (within the age range of 3 months to 6 years),
First degree atrioventricular block,
Focal clonic seizure,
Focal hemiclonic seizure,
Focal impaired awareness seizure,
Focal-onset seizure,
Generalized cerebral atrophy/hypoplasia,
Generalized hypotonia,
Generalized myoclonic seizure,
Generalized non-motor (absence) seizure,
Generalized-onset seizure,
Global developmental delay,
Heart block,
Hypotonia,
Incoordination,
Left atrial enlargement,
Limb ataxia,
Limited knee extension,
Mental deterioration,
Motor delay,
Neurodevelopmental delay,
Obsessive-compulsive trait,
Paroxysmal atrial fibrillation,
Paroxysmal ventricular tachycardia,
Pes planus,
Poor fine motor coordination,
Psychomotor retardation,
Right bundle branch block,
ST segment elevation,
Secondary microcephaly,
Seizure,
Sick sinus syndrome,
Spasticity,
Status epilepticus,
Supraventricular tachycardia,
Syncope,
Tachycardia,
Talipes valgus,
Tibial torsion,
Tremor,
Trifascicular block,
Ventricular arrhythmia,
Ventricular fibrillation,
Vertigo
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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.