| Monarch Ortholog Phenotypes
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Human (52 sources):
Abnormal foot morphology,
Abnormal pyramidal sign,
Abnormal renal physiology,
Abnormality of epiphysis morphology,
Abnormality of eye movement,
Abnormality of metabolism/homeostasis,
Abnormality of retinal pigmentation,
Abnormality of the orbital region,
Abnormality of vision,
Anosmia,
Arrhythmia,
Ataxia,
Cardiomegaly,
Cardiomyopathy,
Cataract,
Congestive heart failure,
Developmental regression,
Dry skin,
Elevated levels of phytanic acid,
Hammertoe,
Heart block,
Hemiplegia/hemiparesis,
Hyporeflexia,
Hypotonia,
Ichthyosis,
Increased CSF protein,
Intellectual disability, severe,
Limb muscle weakness,
Microphthalmia,
Miosis,
Multiple epiphyseal dysplasia,
Nail dysplasia,
Nyctalopia,
Nystagmus,
Peripheral neuropathy,
Pes cavus,
Progressive visual loss,
Ptosis,
Renal insufficiency,
Respiratory insufficiency,
Retinal degeneration,
Retinopathy,
Rod-cone dystrophy,
Sensorimotor neuropathy,
Sensorineural hearing impairment,
Short fourth metatarsal,
Short metacarpal,
Skeletal dysplasia,
Skeletal muscle atrophy,
Somatic sensory dysfunction,
Splenomegaly,
Visual impairment
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Mouse (14 sources):
abnormal action potential,
abnormal astrocyte physiology,
abnormal blood homeostasis,
abnormal circulating lipid level,
abnormal spermatogonia morphology,
decreased Purkinje cell number,
decreased circulating free fatty acids level,
decreased white adipose tissue amount,
increased circulating alanine transaminase level,
increased circulating amylase level,
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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.