| Monarch Ortholog Phenotypes
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Human (28 sources):
Abnormal foot morphology,
Ataxia,
Choreoathetosis,
Delayed ability to walk,
Dyskinesia,
Dystonia,
EEG abnormality,
Epicanthus,
Feeding difficulties,
Gastroesophageal reflux,
Global developmental delay,
High forehead,
Hyperkinetic movements,
Inability to walk,
Involuntary movements,
Motor stereotypy,
Neonatal hypotonia,
Nystagmus,
Prominent nasal tip,
Scoliosis,
Self-injurious behavior,
Short nose,
Sleep apnea,
Smooth philtrum,
Strabismus,
Thin upper lip vermilion,
Visual impairment,
obsolete Joint laxity
[+]
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Mouse (24 sources):
abnormal CNS synaptic transmission,
abnormal adipose tissue amount,
abnormal coronary sinus connection,
abnormal ductus venosus valve morphology,
abnormal excitatory postsynaptic currents,
abnormal infrahyoid muscle connection,
abnormal inhibitory postsynaptic currents,
abnormal miniature excitatory postsynaptic currents,
abnormal neuron physiology,
abnormal neurotransmitter secretion,
abnormal suckling behavior,
adrenal gland cyst,
decreased mean corpuscular hemoglobin concentration,
dilated bile duct,
increased erythrocyte cell number,
increased synaptic depression,
increased total body fat amount,
nervous system phenotype,
no abnormal phenotype detected,
postnatal lethality,
postnatal lethality, complete penetrance,
preweaning lethality, incomplete penetrance,
thoracoschisis,
thyroid gland cyst
[+]
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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.