speg Phenotypes

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Phenotypes

Gene Literature (2)

Nucleotides (63)

Interactants (176)

XB-GENEPAGE-984259

Gene Symbol: speg Gene Name: striated muscle enriched protein kinase

Expression Phenotypes 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.
Computed annotations: speg assayed (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (40 sources): Abnormal facial shape, Abnormal heart valve morphology, Arachnodactyly, Areflexia, Axial muscle weakness, Bifid uvula, Centrally nucleated skeletal muscle fibers, Delayed speech and language development, Difficulty climbing stairs, Difficulty running, Dilated cardiomyopathy, Dysarthria, Dysphonia, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, Facial diplegia, Facial palsy, Generalized amyotrophy, Generalized hypotonia, Gowers sign, High palate, Hip contracture, Hyperlordosis, Intellectual disability, mild, Left ventricular hypertrophy, Long face, Micrognathia, Motor delay, Narrow mouth, Ophthalmoparesis, Ophthalmoplegia, Pes cavus, Progressive muscle weakness, Protruding ear, Respiratory insufficiency, Retrognathia, Scapular winging, Severe muscular hypotonia, Talipes equinovarus, Type 1 muscle fiber predominance, Waddling gait [+]
Mouse (12 sources): abnormal coronary vessel morphology, abnormal epicardium morphology, abnormal fetal cardiomyocyte morphology, decreased cardiac muscle contractility, dilated heart, dilated heart left atrium, dilated heart ventricle, increased heart weight, postnatal lethality, complete penetrance, prenatal lethality, complete penetrance, small lung, thin ventricular wall [+]
View all ortholog results at Monarch