| Monarch Ortholog Phenotypes
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Human (46 sources):
Abnormal atrioventricular conduction,
Abnormal pyramidal sign,
Abnormality of the spinocerebellar tracts,
Areflexia of lower limbs,
Ataxia,
Babinski sign,
Bilateral ptosis,
Cardiomyopathy,
Cerebellar atrophy,
Cognitive impairment,
Deficit in phonologic short-term memory,
Difficulty climbing stairs,
Dysarthria,
Dysphagia,
Elevated circulating creatine kinase concentration,
Esotropia,
Exercise intolerance,
Exercise-induced myalgia,
External ophthalmoplegia,
Fatigable weakness of respiratory muscles,
Feeding difficulties,
Gait imbalance,
Hearing impairment,
High palate,
Hyperreflexia,
Increased circulating lactate concentration,
Limb dysmetria,
Limb muscle weakness,
Loss of ability to walk,
Migraine,
Muscle weakness,
Myalgia,
Neck flexor weakness,
Pigmentary retinopathy,
Postural instability,
Progressive external ophthalmoplegia,
Psychomotor deterioration,
Ptosis,
Respiratory insufficiency,
Respiratory insufficiency due to muscle weakness,
Right bundle branch block,
Scoliosis,
Sensorimotor neuropathy,
Skeletal muscle atrophy,
Unsteady gait,
Weakness of facial musculature
[+]
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Mouse (8 sources):
abnormal respiratory electron transport chain,
decreased embryo size,
decreased mitochondrial DNA content,
disorganized mitochondrial cristae,
embryonic growth arrest,
embryonic lethality during organogenesis, complete penetrance,
increased embryonic tissue cell apoptosis,
increased mitochondrial size
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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.