emd Phenotypes

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Phenotypes

Gene Literature (24)

Nucleotides (119)

Interactants (214)

XB-GENEPAGE-955027

Gene Symbol: emd Gene Name: emerin

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (45 sources): Abnormality of the neck, Absent muscle fiber emerin, Achilles tendon contracture, Atrial arrhythmia, Atrioventricular block, Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated circulating creatine kinase concentration, Gait disturbance, Hyperlordosis, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Hypotonia, Ichthyosis, Increased LDL cholesterol concentration, Joint stiffness, Kyphosis, Limb-girdle muscular dystrophy, Lipodystrophy, Myopathy, Myotonia, Obesity, Pectus excavatum, Proximal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Ptosis, Reduced tendon reflexes, Respiratory insufficiency due to muscle weakness, Rimmed vacuoles, Scapular winging, Scoliosis, Short neck, Spinal rigidity, Sprengel anomaly, Sudden cardiac death, Supraventricular arrhythmia, Type 1 muscle fiber atrophy, Ventricular escape rhythm, Vocal cord paralysis, Waddling gait, obsolete Toe walking [+]
Mouse (14 sources): abnormal circulating phosphate level, abnormal cued conditioning behavior, abnormal gastrocnemius morphology, abnormal heart echocardiography feature, abnormal myocardial fiber morphology, abnormal prepulse inhibition, abnormal seminal vesicle morphology, cellular phenotype, decreased ventricle muscle contractility, increased heart weight, increased myocardial fiber number, increased response of heart to induced stress, muscle phenotype, small myocardial fiber [+]
View all ortholog results at Monarch