| Monarch Ortholog Phenotypes
|
Human (32 sources):
Abnormality of the coagulation cascade,
Ataxia,
Bilateral single transverse palmar creases,
Biliary tract abnormality,
Cholestasis,
Cirrhosis,
Depression,
Dysarthria,
Elevated circulating hepatic transaminase concentration,
Encephalopathy,
Epicanthus,
Failure to thrive,
Fat malabsorption,
Frontal bossing,
Giant cell hepatitis,
Hepatic failure,
Hepatomegaly,
Hyperbilirubinemia,
Hypergonadotropic hypogonadism,
Intrahepatic cholestasis,
Iris hypopigmentation,
Migraine,
Peripheral neuropathy,
Pigmentary retinopathy,
Prolonged neonatal jaundice,
Seizure,
Sensorimotor neuropathy,
Spasticity,
Status epilepticus,
Tremor,
Type II diabetes mellitus,
Visual impairment
[+]
|
|
Mouse (8 sources):
abnormal bile composition,
abnormal circulating cholesterol level,
decreased fatty acids level,
decreased triglyceride level,
increased circulating alkaline phosphatase level,
increased fatty acids level,
increased sensitivity to induced morbidity/mortality,
increased susceptibility to weight loss
|
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.