| Monarch Ortholog Phenotypes
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Human (48 sources):
Abnormal autonomic nervous system physiology,
Abnormal calf musculature morphology,
Abnormality of the hypothenar eminence,
Abnormality of visual evoked potentials,
Achalasia,
Adrenal insufficiency,
Adrenocorticotropin receptor defect,
Alacrima,
Anisocoria,
Anterior hypopituitarism,
Ataxia,
Babinski sign,
Decreased circulating cortisol level,
Developmental regression,
Dysarthria,
Dysphagia,
Feeding difficulties,
Gait disturbance,
Generalized hyperpigmentation,
Generalized hypotonia,
Global developmental delay,
Hearing impairment,
Hyperkeratosis,
Hyperpigmentation of the skin,
Hyperreflexia,
Hypohidrosis,
Hypotonia,
Intellectual disability,
Iris coloboma,
Microcephaly,
Motor axonal neuropathy,
Muscle weakness,
Nasal speech,
Nystagmus,
Optic atrophy,
Orthostatic hypotension,
Palmoplantar hyperkeratosis,
Palmoplantar keratoderma,
Pes cavus,
Plantar hyperkeratosis,
Respiratory insufficiency,
Seizure,
Sensorineural hearing impairment,
Short stature,
Somatic sensory dysfunction,
Strabismus,
Visual impairment,
obsolete Decreased circulating aldosterone level
[+]
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Mouse (3 sources):
abnormal locomotor activation,
decreased circulating glucose level,
increased vertical activity
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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.