| Monarch Ortholog Phenotypes
|
Human (42 sources):
Abdominal distention,
Abdominal pain,
Abnormality of the coagulation cascade,
Bicarbonaturia,
Cataract,
Chronic hepatic failure,
Chronic kidney disease,
Cirrhosis,
Coma,
Constipation,
Diarrhea,
Elevated circulating hepatic transaminase concentration,
Episodic hyperhidrosis,
Failure to thrive,
Fructose intolerance,
Gastrointestinal hemorrhage,
Glycosuria,
Growth delay,
Hepatic steatosis,
Hepatomegaly,
Hyperbilirubinemia,
Hypermagnesemia,
Hyperphosphaturia,
Hyperuricemia,
Hyperuricosuria,
Hypoglycemia,
Hypophosphatemia,
Intellectual disability,
Jaundice,
Lactic acidosis,
Lethargy,
Malnutrition,
Metabolic acidosis,
Nausea,
Proximal renal tubular acidosis,
Proximal tubulopathy,
Reactive hypoglycemia,
Reduced aldolase level,
Renal insufficiency,
Seizure,
Transient aminoaciduria,
Vomiting
[+]
|
|
Mouse (10 sources):
abnormal body length,
abnormal bone mineralization,
abnormal portal triad morphology,
decreased body length,
decreased body size,
decreased bone mineral content,
decreased startle reflex,
increased sensitivity to induced morbidity/mortality,
pale liver,
preweaning lethality, incomplete 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.