| Monarch Ortholog Phenotypes
|
Human (24 sources):
Abnormality of the skin,
Ataxia,
Cerebral atrophy,
Encephalopathy,
Failure to thrive,
Feeding difficulties,
Global developmental delay,
Growth delay,
Hearing impairment,
Hyperhidrosis,
Hypoglycemia,
Hypophosphatemia,
Hypotonia,
Intellectual disability,
Intellectual disability, severe,
Intermittent hyperpnea at rest,
Lactic acidosis,
Methylmalonic aciduria,
Poor motor coordination,
Respiratory insufficiency,
Seizure,
Skeletal muscle atrophy,
Unsteady gait,
obsolete Renal aminoaciduria
[+]
|
|
Mouse (5 sources):
abnormal craniofacial morphology,
abnormal cranium morphology,
abnormal embryo size,
embryonic lethality prior to tooth bud stage,
preweaning lethality, complete penetrance
|
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.