Human (52 sources):
Abnormal morphology of musculature of pharynx,
Abnormality of facial musculature,
Abnormality of masseter muscle,
Abnormality of orbicularis oris muscle,
Areflexia,
Aspiration,
Autophagic vacuoles,
Bowing of the vocal cords,
Difficulty in tongue movements,
Difficulty walking,
Distal amyotrophy,
Distal lower limb amyotrophy,
Distal lower limb muscle weakness,
Distal muscle weakness,
Distal upper limb amyotrophy,
Distal upper limb muscle weakness,
Dysarthria,
Dysphagia,
EMG: myopathic abnormalities,
Elevated circulating creatine kinase concentration,
External ophthalmoplegia,
Facial palsy,
Fatigable weakness of bulbar muscles,
Foot dorsiflexor weakness,
High palate,
High, narrow palate,
Impaired oropharyngeal swallow response,
Increased variability in muscle fiber diameter,
Loss of ability to walk,
Myopathic facies,
Nasal speech,
Nasal, dysarthic speech,
Ophthalmoparesis,
Oral-pharyngeal dysphagia,
Paraplegia,
Progressive distal muscle weakness,
Progressive external ophthalmoplegia,
Progressive proximal muscle weakness,
Progressive ptosis,
Progressive sensorineural hearing impairment,
Proximal muscle weakness,
Proximal muscle weakness in upper limbs,
Ptosis,
Recurrent aspiration pneumonia,
Respiratory insufficiency due to muscle weakness,
Restrictive ventilatory defect,
Rimmed vacuoles,
Sensorineural hearing impairment,
Tibialis muscle weakness,
Vocal cord paresis,
Weakness of facial musculature,
Weight loss
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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.