| Monarch Ortholog Phenotypes
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Human (41 sources):
Anemia,
Ataxia,
CSF pleocytosis,
Coma,
Decreased HDL cholesterol concentration,
Failure to thrive,
Fever,
Generalized edema,
Generalized hypotonia,
Global developmental delay,
Granulocytopenia,
Hemiplegia,
Hemophagocytosis,
Hepatomegaly,
Hepatosplenomegaly,
Hypertriglyceridemia,
Hypoalbuminemia,
Hypofibrinogenemia,
Hyponatremia,
Hypoproteinemia,
Hypotonia,
Increased CSF protein,
Increased LDL cholesterol concentration,
Increased VLDL cholesterol concentration,
Increased circulating ferritin concentration,
Increased intracranial pressure,
Increased total bilirubin,
Infectious encephalitis,
Irritability,
Jaundice,
Leukopenia,
Lymphadenopathy,
Meningitis,
Prolonged partial thromboplastin time,
Prolonged prothrombin time,
Reduced natural killer cell activity,
Seizure,
Spasticity,
Splenomegaly,
Tetraplegia,
Thrombocytopenia
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Mouse (13 sources):
abnormal bone marrow morphology,
abnormal macrophage physiology,
abnormal platelet dense granule physiology,
decreased cerebral infarct size,
decreased cytotoxic T cell cytolysis,
decreased susceptibility to ischemic brain injury,
hematopoietic system phenotype,
hemophagocytosis,
impaired blood coagulation,
increased CD8-positive, alpha-beta T cell number,
[+]
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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.