Human (63 sources):
Abnormal pyramidal sign,
Absent speech,
Adrenal pheochromocytoma,
Aniridia,
Arachnoid hemangiomatosis,
Babinski sign,
Cerebellar atrophy,
Cerebral hemorrhage,
Chest pain,
Conductive hearing impairment,
Congestive heart failure,
Constipation,
Cranial nerve compression,
Delayed myelination,
Dysphonia,
Dystonia,
Elevated calcitonin,
Elevated urinary dopamine,
Elevated urinary epinephrine,
Elevated urinary norepinephrine,
Epileptic encephalopathy,
Episodic abdominal pain,
Episodic hyperhidrosis,
Episodic paroxysmal anxiety,
Extraadrenal pheochromocytoma,
Failure to thrive,
Fatigue,
Feeding difficulties,
Flushing,
Global developmental delay,
Glomerular sclerosis,
Hematuria,
Hypercalcemia,
Hypertension associated with pheochromocytoma,
Hypertensive retinopathy,
Hypoplasia of the corpus callosum,
Hyporeflexia,
Inability to walk,
Increased CSF lactate,
Increased circulating lactate concentration,
Nausea,
Pallor,
Palpitations,
Panic attack,
Paraganglioma,
Paraganglioma of head and neck,
Paroxysmal vertigo,
Poor head control,
Positive regitine blocking test,
Proteinuria,
Pulsatile tinnitus,
Recurrent paroxysmal headache,
Renal cell carcinoma,
Retinal capillary hemangioma,
Rod-cone dystrophy,
Seizure,
Sinus tachycardia,
Skeletal muscle atrophy,
Strabismus,
Supernumerary nipple,
Tremor,
Vocal cord paralysis,
Weight loss
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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.