| Monarch Ortholog Phenotypes
|
Human (32 sources):
Abnormal heart valve morphology,
Abnormal left ventricular outflow tract morphology,
Abnormality of the pinna,
Abnormality of the skin,
Aortic aneurysm,
Aortic regurgitation,
Aortic valve stenosis,
Arrhythmia,
Atrial fibrillation,
Bicuspid aortic valve,
Broad forehead,
Delayed skeletal maturation,
Dental crowding,
Dolichocephaly,
High palate,
Intellectual disability,
Joint hyperflexibility,
Left ventricular outflow tract obstruction,
Long face,
Low-set ears,
Micrognathia,
Mitral valve prolapse,
Myxomatous mitral valve degeneration,
Prominent nose,
Ptosis,
Pulmonic stenosis,
Short philtrum,
Short stature,
Subvalvular aortic stenosis,
Tetralogy of Fallot,
Tricuspid regurgitation,
Ventricular septal defect
[+]
|
|
Mouse (7 sources):
abnormal hepatocyte morphology,
abnormal vascular development,
abnormal vitelline vasculature morphology,
embryonic lethality during organogenesis, complete penetrance,
embryonic lethality, complete penetrance,
liver hemorrhage,
postnatal 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.