| Monarch Ortholog Phenotypes
|
Human (34 sources):
Arrhythmia,
Cerebellar atrophy,
Cerebellar hypoplasia,
Decreased mitochondrial number,
Diarrhea,
Dilated cardiomyopathy,
Dysphagia,
Dysphonia,
Dyspnea,
Easy fatigability,
Elevated circulating creatine kinase concentration,
Exercise intolerance,
Facial palsy,
Generalized amyotrophy,
Hypergonadotropic hypogonadism,
Hyporeflexia,
Intellectual disability,
Kyphosis,
Microcephaly,
Myopathy,
Nasal speech,
Nausea,
Nephrolithiasis,
Poor appetite,
Progressive external ophthalmoplegia,
Proximal amyotrophy,
Ptosis,
Ragged-red muscle fibers,
Recurrent infections,
Respiratory insufficiency,
Respiratory insufficiency due to muscle weakness,
Spinal deformities,
Spinal rigidity,
Weakness of facial musculature
[+]
|
|
Mouse (8 sources):
abnormal mitochondrial physiology,
decreased hemoglobin content,
decreased mitochondrial DNA content,
growth/size/body region phenotype,
increased body length,
increased bone mineral content,
increased lean body mass,
reproductive system phenotype
|
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.