| Monarch Ortholog Phenotypes
|
Human (48 sources):
Abnormal electroretinogram,
Abnormal nervous system morphology,
Abnormality of metabolism/homeostasis,
Abnormality of visual evoked potentials,
Babinski sign,
Bilateral sensorineural hearing impairment,
Brachycephaly,
CNS demyelination,
Decreased light- and dark-adapted electroretinogram amplitude,
Depressed nasal bridge,
Developmental regression,
Diffuse hepatic steatosis,
Dysphagia,
Dystonia,
EEG abnormality,
Elevated circulating hepatic transaminase concentration,
Epicanthus,
Failure to thrive,
Frontal bossing,
Gait disturbance,
Global developmental delay,
Hand polydactyly,
Hepatomegaly,
Hyperreflexia,
Hypertelorism,
Hypodontia,
Hypotonia,
Intellectual disability, progressive,
Intellectual disability, severe,
Inverted nipples,
Irritability,
Leukodystrophy,
Low-set ears,
Myopia,
Neonatal hypotonia,
Neurological speech impairment,
No social interaction,
Nystagmus,
Optic atrophy,
Pigmentary retinopathy,
Respiratory insufficiency,
Rod-cone dystrophy,
Seizure,
Sensorineural hearing impairment,
Severe global developmental delay,
Spasticity,
Strabismus,
Wide nasal bridge
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Mouse (13 sources):
abnormal hepatocyte morphology,
abnormal liver regeneration,
abnormal spermatid morphology,
decreased Leydig cell number,
increased circulating alanine transaminase level,
increased circulating alkaline phosphatase level,
increased hepatocellular carcinoma incidence,
increased hepatoma incidence,
increased liver weight,
microvesicular hepatic steatosis,
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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.