| Monarch Ortholog Phenotypes
|
Human (25 sources):
Abnormal foot morphology,
Areflexia,
Arthritis,
Bilateral sensorineural hearing impairment,
Decreased nerve conduction velocity,
Distal amyotrophy,
Distal muscle weakness,
EMG: myopathic abnormalities,
Fatty replacement of skeletal muscle,
Hoarse voice,
Hyporeflexia,
Increased variability in muscle fiber diameter,
Lower limb muscle weakness,
Mildly elevated creatine kinase,
Mitochondrial swelling,
Muscle weakness,
Myopathy,
Peripheral neuropathy,
Progressive distal muscle weakness,
Progressive sensorineural hearing impairment,
Proximal muscle weakness,
Seizure,
Skeletal muscle atrophy,
Structural foot deformity,
Tremor
[+]
|
|
Mouse (6 sources):
cardiovascular system phenotype,
decreased fasting circulating glucose level,
increased lymphoma incidence,
nervous system phenotype,
no abnormal phenotype detected,
respiratory system phenotype
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View all ortholog results at Monarch
|
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.