| Monarch Ortholog Phenotypes
|
Human (49 sources):
Abnormal blistering of the skin,
Abnormal pulmonary valve morphology,
Abnormal rib morphology,
Abnormality of epiphysis morphology,
Abnormality of hair texture,
Abnormality of metabolism/homeostasis,
Abnormality of movement,
Abnormality of temperature regulation,
Abnormality of the metaphysis,
Abnormality of visual evoked potentials,
Anemia,
Apnea,
Bone pain,
Bowing of the long bones,
Bruising susceptibility,
Chronic rhinitis,
Cranial nerve paralysis,
Craniosynostosis,
Delayed eruption of teeth,
Facial palsy,
Failure to thrive,
Feeding difficulties,
Frontal bossing,
Growth delay,
Hearing impairment,
Hepatomegaly,
Hydrocephalus,
Hypocalcemia,
Hypophosphatemia,
Lymphadenopathy,
Macrocephaly,
Narrow chest,
Nystagmus,
Opsoclonus,
Optic atrophy,
Optic nerve compression,
Osteopetrosis,
Otitis media,
Pallor,
Premature loss of primary teeth,
Pulmonary arterial hypertension,
Pulmonary artery stenosis,
Recurrent fractures,
Recurrent respiratory infections,
Reduced bone mineral density,
Splenomegaly,
Thrombocytopenia,
Tremor,
Visual impairment
[+]
|
Mouse (31 sources):
abnormal blood homeostasis,
abnormal epiphyseal plate morphology,
abnormal gastric chief cell morphology,
abnormal gastric parietal cell morphology,
abnormal long bone metaphysis morphology,
abnormal osteoclast morphology,
abnormal osteoclast physiology,
abnormal skeleton development,
absent teeth,
decreased body length,
decreased body size,
decreased bone mineral content,
decreased bone mineral density of femur,
decreased bone stiffness,
decreased bone strength,
decreased bone trabecular spacing,
decreased bone volume,
decreased femur compact bone thickness,
decreased heart weight,
decreased osteoblast cell number,
decreased osteoclast cell number,
decreased survivor rate,
digestive/alimentary phenotype,
increased bone trabecula number,
increased bone volume,
increased circulating parathyroid hormone level,
increased osteoid volume,
increased stomach pH,
increased trabecular bone thickness,
premature death,
tooth impaction
[+]
|
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.