| Monarch Ortholog Phenotypes
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Human (38 sources):
Abnormal cardiovascular system morphology,
Abnormal hair quantity,
Abnormality of the endocrine system,
Abnormality of the upper urinary tract,
Atrial fibrillation,
Atrial flutter,
Cataract,
Cerebral atrophy,
Cholelithiasis,
Cryptorchidism,
Decreased fetal movement,
Dysphagia,
EMG abnormality,
Facial diplegia,
Facial palsy,
Feeding difficulties in infancy,
First degree atrioventricular block,
Frontal balding,
Gastroschisis,
Generalized hypotonia,
Hip dislocation,
Hydrocephalus,
Hypogonadism,
Hypotonia,
Intellectual disability, progressive,
Intellectual disability, severe,
Mask-like facies,
Muscle weakness,
Myotonia,
Non-midline cleft of the upper lip,
Obsessive-compulsive trait,
Polyhydramnios,
Respiratory distress,
Skeletal muscle atrophy,
Spasticity,
Strabismus,
Testicular atrophy,
obsolete Excessive daytime sleepiness
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Mouse (12 sources):
abnormal atrioventricular node conduction,
abnormal calcium ion homeostasis,
abnormal muscle regeneration,
abnormal myocardial fiber physiology,
abnormal sarcomere morphology,
absent Z line,
decreased skeletal muscle fiber diameter,
dilated sarcoplasmic reticulum,
impaired skeletal muscle contractility,
increased variability of skeletal muscle fiber size,
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View all ortholog results at Monarch
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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.