| Monarch Ortholog Phenotypes
|
Human (48 sources):
Anemia,
Ataxia,
Bilateral tonic-clonic seizure with focal onset,
Cardiomegaly,
Cerebellar atrophy,
Cerebral visual impairment,
Developmental regression,
Dysarthria,
EEG with focal spikes,
Elevated circulating creatine kinase concentration,
Encephalopathy,
Episodic vomiting,
Fatigue,
Feeding difficulties,
Focal T2 hyperintense basal ganglia lesion,
Gastrostomy tube feeding in infancy,
Generalized edema,
Glomerular sclerosis,
Heavy proteinuria,
Hepatic failure,
Hypergonadotropic hypogonadism,
Hypertrophic cardiomyopathy,
Hypoalbuminemia,
Increased circulating lactate concentration,
Infantile muscular hypotonia,
Intellectual disability,
Intrauterine growth retardation,
Lactic acidosis,
Motor delay,
Nephrotic syndrome,
Nystagmus,
Oligohydramnios,
Pancytopenia,
Postural instability,
Progressive muscle weakness,
Ragged-red muscle fibers,
Recurrent myoglobinuria,
Renal cyst,
Renal tubular acidosis,
Rod-cone dystrophy,
Scanning speech,
Seizure,
Sensorineural hearing impairment,
Severe lactic acidosis,
Specific learning disability,
Tubulointerstitial nephritis,
Undetectable visual evoked potentials,
Visual loss
[+]
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|
Mouse (6 sources):
abnormal heart weight,
decreased bone mineral content,
decreased heart weight,
embryonic lethality prior to tooth bud stage,
increased total body fat amount,
preweaning lethality, complete penetrance
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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.