| Monarch Ortholog Phenotypes
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Human (43 sources):
Abnormal fundus morphology,
Abnormality of extrapyramidal motor function,
Ataxia,
Babinski sign,
Blindness,
Cerebellar atrophy,
Cerebral atrophy,
Chorea,
Cone/cone-rod dystrophy,
Congestive heart failure,
Dysarthria,
Dysdiadochokinesis,
Dysmetria,
Dysphagia,
Failure to thrive,
Feeding difficulties,
Global developmental delay,
Hemeralopia,
Hyperreflexia,
Macular degeneration,
Mental deterioration,
Motor delay,
Muscle weakness,
Neonatal hypotonia,
Nystagmus,
Olivopontocerebellar atrophy,
Ophthalmoparesis,
Ophthalmoplegia,
Optic atrophy,
Orofacial dyskinesia,
Photophobia,
Pigmentary retinopathy,
Progressive cerebellar ataxia,
Progressive visual loss,
Psychosis,
Reduced visual acuity,
Restless legs,
Slow saccadic eye movements,
Somatic sensory dysfunction,
Spasticity,
Supranuclear ophthalmoplegia,
Tremor,
Visual loss
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Mouse (14 sources):
abnormal Bergmann glial cell morphology,
abnormal Purkinje cell morphology,
abnormal cerebellum vermis morphology,
abnormal retina rod cell morphology,
behavior/neurological phenotype,
decreased brain size,
decreased locomotor activity,
decreased post-tetanic potentiation,
decreased retina photoreceptor cell number,
premature death,
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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.