| Monarch Ortholog Phenotypes
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Human (25 sources):
Abnormal facial shape,
Abnormality of skin morphology,
Abnormality of the nervous system,
Brain imaging abnormality,
Cerebral cortical atrophy,
Cryptorchidism,
Delayed myelination,
Developmental regression,
Epileptic encephalopathy,
Flexion contracture,
Generalized hypotonia,
Global developmental delay,
Headache,
Hypertelorism,
Hypsarrhythmia,
Infantile spasms,
Low-set ears,
Microcephaly,
Myoclonus,
Narrow mouth,
Poor head control,
Scoliosis,
Seizure,
Spastic tetraparesis,
Ventriculomegaly
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Mouse (11 sources):
abnormal bone mineralization,
abnormal circulating alanine transaminase level,
abnormal circulating aspartate transaminase level,
abnormal circulating triglyceride level,
abnormal kidney morphology,
abnormal seminal vesicle morphology,
decreased circulating alanine transaminase level,
decreased circulating aspartate transaminase level,
enlarged lymph nodes,
enlarged seminal vesicle,
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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.