| Monarch Ortholog Phenotypes
|
Human (29 sources):
Abnormal facial shape,
Adrenal insufficiency,
Adrenocortical hypoplasia,
Coma,
Cryptorchidism,
Downturned corners of mouth,
Episodic vomiting,
Frontal bossing,
Global developmental delay,
Growth delay,
Hypertelorism,
Hypertriglyceridemia,
Hypoglycemia,
Increased urinary glycerol,
Intellectual disability,
Ketoacidosis,
Lethargy,
Loss of consciousness,
Low-set ears,
Metabolic acidosis,
Muscular dystrophy,
Myopathy,
obsolete Psychomotor retardation,
Osteoporosis,
Pathologic fracture,
Seizure,
Short stature,
Small for gestational age,
Strabismus
[+]
|
|
Mouse (7 sources):
abnormal pituitary secretion,
abnormal suckling behavior,
decreased circulating glucose level,
decreased fatty acids level,
decreased locomotor activity,
increased fatty acids level,
postnatal 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.