| Monarch Ortholog Phenotypes
|
Human (23 sources):
Broad nasal tip,
Cardiomyopathy,
Deeply set eye,
Depressed nasal bridge,
Distal amyotrophy,
Elevated circulating creatine kinase concentration,
Elevated circulating hepatic transaminase concentration,
Full cheeks,
Hepatic fibrosis,
Hepatomegaly,
Hyperlipidemia,
Hypertriglyceridemia,
Hypoglycemia,
Immunodeficiency,
Intellectual disability, mild,
Malar flattening,
Midface retrusion,
Muscle weakness,
Myopathy,
Short stature,
Thin upper lip vermilion,
Thin vermilion border,
Ventricular hypertrophy
[+]
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Mouse (23 sources):
abnormal hepatocyte morphology,
abnormal sinus arrhythmia,
cardiovascular system phenotype,
decreased bone mineral content,
decreased circulating glucose level,
decreased exploration in new environment,
decreased fasting circulating glucose level,
decreased grip strength,
decreased heart rate variability,
decreased locomotor activity,
impaired exercise endurance,
increased brain glycogen level,
increased cardiac muscle glycogen level,
increased circulating alanine transaminase level,
increased circulating alkaline phosphatase level,
increased circulating aspartate transaminase level,
increased circulating iron level,
increased glycogen level,
increased lean body mass,
increased pulmonary respiratory rate,
increased skeletal muscle glycogen level,
premature death,
preweaning lethality, incomplete penetrance
[+]
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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.