| Monarch Ortholog Phenotypes
|
Human (31 sources):
Abnormal cardiovascular system morphology,
Biconcave flattened vertebrae,
Blue sclerae,
Bowing of limbs due to multiple fractures,
Brachyturricephaly,
Delayed eruption of teeth,
Dentinogenesis imperfecta,
Depressed nasal bridge,
Facial asymmetry,
Femoral bowing present at birth, straightening with time,
Generalized osteoporosis,
Hearing impairment,
High palate,
Increased susceptibility to fractures,
Kyphosis,
Malar flattening,
Micrognathia,
Midface retrusion,
Motor delay,
Narrow mouth,
Osteoporosis,
Otosclerosis,
Pectus carinatum,
Progressive hearing impairment,
Prominent forehead,
Prominent supraorbital ridges,
Recurrent fractures,
Reduced bone mineral density,
Scoliosis,
Short stature,
Wormian bones
[+]
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Mouse (8 sources):
abnormal bone mineralization,
abnormal limb morphology,
abnormal osteoblast differentiation,
abnormal skeleton development,
failure of bone ossification,
failure of endochondral bone ossification,
neonatal lethality, complete penetrance,
no abnormal phenotype detected
|
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.