| Monarch Ortholog Phenotypes
|
Human (51 sources):
Abnormal foot morphology,
Absent Achilles reflex,
Achilles tendon contracture,
Areflexia,
Camptodactyly of finger,
Distal lower limb amyotrophy,
Distal lower limb muscle weakness,
Distal sensory impairment,
Distal sensory impairment of all modalities,
EMG: chronic denervation signs,
EMG: myokymic discharges,
Elevated circulating creatine kinase concentration,
Exercise intolerance,
Exercise-induced leg cramps,
Exercise-induced muscle cramps,
Fasciculations,
Fatigable weakness of distal limb muscles,
Flexion contracture,
Foot dorsiflexor weakness,
Frequent falls,
Gait disturbance,
Hand muscle atrophy,
Handgrip myotonia,
Hyperhidrosis,
Impaired vibration sensation in the lower limbs,
Intellectual disability, mild,
Intrinsic hand muscle atrophy,
Limb fasciculations,
Loss of ambulation,
Motor axonal neuropathy,
Motor polyneuropathy,
Muscle spasm,
Muscle stiffness,
Myokymia,
Myotonia,
Paresthesia,
Percussion-induced rapid rolling muscle contractions,
Peroneal muscle atrophy,
Pes cavus,
Reduced tendon reflexes,
Sensory axonal neuropathy,
Short third metatarsal,
Skeletal muscle atrophy,
Specific learning disability,
Split hand,
Steppage gait,
Tetraparesis,
Thoracic scoliosis,
Weakness of long finger extensor muscles,
Weakness of the intrinsic hand muscles,
Writer's cramp
[+]
|
|
Mouse (8 sources):
decreased cellular sensitivity to gamma-irradiation,
decreased circulating free fatty acids level,
decreased erythrocyte cell number,
increased fibroblast proliferation,
increased incidence of tumors by chemical induction,
increased mean corpuscular hemoglobin concentration,
increased startle reflex,
no abnormal phenotype detected
|
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.