| Monarch Ortholog Phenotypes
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Human (50 sources):
Areflexia,
Arthrogryposis multiplex congenita,
Axial muscle weakness,
Bradykinesia,
Delayed gross motor development,
Elevated circulating creatine kinase concentration,
Facial diplegia,
Facial palsy,
Fatigable weakness of distal limb muscles,
Fatigable weakness of respiratory muscles,
Fatiguable weakness of proximal limb muscles,
Feeding difficulties,
Flexion contracture,
Foot dorsiflexor weakness,
Gait disturbance,
Generalized hypotonia,
Genu valgum,
Genu varum,
Gowers sign,
High palate,
Hip dislocation,
Hyperlordosis,
Hyporeflexia,
Hypotonia,
Increased variability in muscle fiber diameter,
Joint hypermobility,
Kyphosis,
Limb-girdle muscle weakness,
Micrognathia,
Minicore myopathy,
Muscle weakness,
Myofibrillar myopathy,
Myopathy,
Narrow chest,
Narrow face,
Neck flexor weakness,
Neck muscle weakness,
Nemaline bodies,
Neonatal hypotonia,
Nocturnal hypoventilation,
Pectus excavatum,
Polyhydramnios,
Ptosis,
Respiratory insufficiency,
Respiratory insufficiency due to muscle weakness,
Scoliosis,
Short neck,
Spinal rigidity,
Type 1 muscle fiber predominance,
Waddling gait
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Mouse (15 sources):
abnormal Z line morphology,
abnormal food intake,
abnormal locomotor activation,
abnormal sarcomere morphology,
abnormal skeletal muscle fiber type ratio,
abnormal skeletal muscle morphology,
abnormal suckling behavior,
decreased body length,
decreased body size,
impaired righting response,
[+]
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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.