| Monarch Ortholog Phenotypes
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Human (53 sources):
Abnormal substantia nigra morphology,
Abnormality of extrapyramidal motor function,
Abnormality of eye movement,
Anxiety,
Ataxia,
Babinski sign,
Bradykinesia,
Brisk reflexes,
Choreoathetosis,
Compulsive behaviors,
Decreased CSF homovanillic acid concentration,
Depression,
Dysphagia,
Dystonia,
Excessive salivation,
Fatigue,
Focal dystonia,
Gait ataxia,
Generalized dystonia,
Global developmental delay,
Hearing impairment,
Horizontal nystagmus,
Hyperphenylalaninemia,
Hyperreflexia,
Hypertension,
Hypothyroidism,
Impaired vibration sensation in the lower limbs,
Intellectual disability, progressive,
Irritability,
Lethargy,
Limb dystonia,
Limb hypertonia,
Lower limb hyperreflexia,
Paresis of extensor muscles of the big toe,
Parkinsonism,
Parkinsonism with favorable response to dopaminergic medication,
Pes cavus,
Postural tremor,
Progressive flexion contractures,
Progressive neurologic deterioration,
Psychomotor retardation,
Recurrent fever,
Rheumatoid arthritis,
Rigidity,
Scoliosis,
Seizure,
Severe muscular hypotonia,
Sleep disturbance,
Talipes equinovarus,
Torticollis,
Transient hyperphenylalaninemia,
Tremor,
Writer's cramp
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Mouse (17 sources):
abnormal motor capabilities/coordination/movement,
decreased brain tyrosine 3-monooxygenase activity,
decreased dopamine level,
decreased locomotor activity,
decreased nervous system dopamine level,
decreased noradrenaline level,
decreased serotonin level,
decreased vocalization,
embryonic lethality during organogenesis, complete penetrance,
embryonic lethality prior to tooth bud stage,
[+]
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View all ortholog results at Monarch
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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.