| Monarch Ortholog Phenotypes
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Human (27 sources):
Abnormal brainstem MRI signal intensity,
Abnormal brainstem morphology,
Abnormal pattern of respiration,
Abnormal putamen morphology,
Abnormal visual fixation,
Abnormality of thalamus morphology,
Abnormality of the immune system,
Acute encephalopathy,
Cerebral edema,
Choroid hemorrhage,
Coma,
Developmental regression,
Dysarthria,
Encephalopathy,
Fever,
Gait disturbance,
Generalized muscle weakness,
Gliosis,
Increased CSF protein,
Intellectual disability,
Pneumonia,
Rigidity,
Seizure,
Spastic tetraplegia,
Spasticity,
Tetraplegia,
Vomiting
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Mouse (21 sources):
abnormal embryo size,
abnormal epididymis morphology,
abnormal mitosis,
abnormal rod electrophysiology,
aneuploidy,
decreased susceptibility to diet-induced obesity,
decreased tumor latency,
elevated level of mitotic sister chromatid exchange,
embryonic lethality prior to organogenesis,
embryonic lethality prior to tooth bud stage,
embryonic lethality, complete penetrance,
enlarged epididymis,
growth/size/body region phenotype,
homeostasis/metabolism phenotype,
increased hepatocellular carcinoma incidence,
increased incidence of tumors by chemical induction,
increased lung carcinoma incidence,
increased tumor incidence,
nervous system phenotype,
prenatal lethality, complete penetrance,
preweaning lethality, complete penetrance
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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.