| Monarch Ortholog Phenotypes
|
Human (40 sources):
Abnormality of the nervous system,
Ankle clonus,
Ataxia,
Cerebral edema,
Cirrhosis,
Coma,
Elevated plasma citrulline,
Episodic ammonia intoxication,
Failure to thrive,
Feeding difficulties,
Gastroesophageal reflux,
Global developmental delay,
Headache,
Hepatic encephalopathy,
Hepatic failure,
Hepatomegaly,
Hyperammonemia,
Hyperglutaminemia,
Hypoargininemia,
Hypotonia,
Increased intracranial pressure,
Intellectual disability,
Intellectual disability, borderline,
Intellectual disability, mild,
Intellectual disability, moderate,
Irritability,
Lethargy,
Loss of consciousness,
Migraine,
Oroticaciduria,
Protein avoidance,
Respiratory alkalosis,
Scotoma,
Seizure,
Slurred speech,
Spasticity,
Stroke,
Tachypnea,
Torticollis,
Vomiting
[+]
|
Mouse (25 sources):
abnormal Bergmann glial cell morphology,
abnormal amino acid level,
abnormal cerebellar granule cell migration,
abnormal cerebellar granule layer morphology,
abnormal cerebellum external granule cell layer morphology,
abnormal enterocyte morphology,
abnormal hair follicle development,
abnormal hair follicle morphology,
circling,
decreased body length,
decreased body size,
decreased brain weight,
delayed hair appearance,
epidermal hyperplasia,
growth/size/body region phenotype,
hearing/vestibular/ear phenotype,
immune system phenotype,
increased circulating citrulline level,
integument phenotype,
neonatal lethality, complete penetrance,
no abnormal phenotype detected,
oxidative stress,
postnatal lethality,
premature death,
vision/eye phenotype
[+]
|
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.