| Monarch Ortholog Phenotypes
|
Human (28 sources):
Abnormality of neutrophils,
Axonal loss,
Congestive heart failure,
Demyelinating peripheral neuropathy,
Diaphragmatic paralysis,
Dilated cardiomyopathy,
Distal sensory impairment,
EMG abnormality,
EMG: myopathic abnormalities,
Easy fatigability,
Elevated circulating creatine kinase concentration,
Facial palsy,
Generalized amyotrophy,
Hypertrophic cardiomyopathy,
Hyporeflexia,
Knee flexion contracture,
Lipoatrophy,
Muscular dystrophy,
Myofibrillar myopathy,
Myopathy,
Nasal speech,
Palmoplantar keratoderma,
Pes cavus,
Reduced forced vital capacity,
Respiratory insufficiency,
Scoliosis,
Sensorineural hearing impairment,
Spinal rigidity
[+]
|
Mouse (29 sources):
abnormal Z line morphology,
abnormal autophagosome formation,
abnormal blood urea nitrogen level,
abnormal fetal cardiomyocyte physiology,
abnormal heart echocardiography feature,
abnormal lean body mass,
abnormal myocardial fiber physiology,
abnormal skeletal muscle morphology,
cardiac fibrosis,
decreased blood urea nitrogen level,
decreased cardiac muscle contractility,
decreased gonadal fat pad weight,
decreased lean body mass,
decreased liver weight,
decreased spleen weight,
decreased thymus weight,
disproportionate dwarf,
impaired autophagy,
increased cardiomyocyte apoptosis,
increased circulating ketone body level,
increased grip strength,
increased heart weight,
myocardial fiber degeneration,
pale liver,
postnatal lethality,
postnatal lethality, complete penetrance,
premature death,
preweaning lethality, complete penetrance,
skeletal muscle fiber degeneration
[+]
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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.