| Monarch Ortholog Phenotypes
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Human (10 sources):
Abnormality of neutrophils,
Dilated cardiomyopathy,
EMG abnormality,
Elevated circulating creatine kinase concentration,
Hypertrophic cardiomyopathy,
Lipoatrophy,
Myopathy,
Palmoplantar keratoderma,
Secundum atrial septal defect,
Sensorineural hearing impairment
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Mouse (35 sources):
abnormal atrial thrombosis,
abnormal cardiac muscle relaxation,
abnormal heart echocardiography feature,
abnormal heart ventricle pressure,
abnormal locomotor activation,
abnormal myocardial fiber morphology,
abnormal myocardial fiber physiology,
abnormal myocardium layer morphology,
cardiac fibrosis,
cardiac hypertrophy,
cardiac interstitial fibrosis,
cardiovascular system phenotype,
decreased cardiac muscle contractility,
decreased cardiac output,
decreased cardiac stroke volume,
decreased left ventricle diastolic pressure,
decreased left ventricle systolic pressure,
decreased ventricle muscle contractility,
dilated heart atrium,
dilated heart left ventricle,
disorganized myocardium,
dystrophic cardiac calcinosis,
embryonic lethality during organogenesis, complete penetrance,
enlarged heart atrium,
enlarged myocardial fiber,
increased cardiac muscle contractility,
increased cardiomyocyte apoptosis,
increased heart weight,
increased physiological sensitivity to xenobiotic,
myocardial fiber disarray,
myocardium hypertrophy,
postnatal lethality, complete penetrance,
premature death,
thick ventricular wall,
thin ventricular wall
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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.