| Monarch Ortholog Phenotypes
|
Human (36 sources):
Anteverted nares,
Axial hypotonia,
Bell-shaped thorax,
Bradykinesia,
Cardiomegaly,
Deep philtrum,
Delayed skeletal maturation,
Depressed nasal bridge,
Dysplastic sacrum,
Frontal bossing,
Global developmental delay,
Hypertension,
Hypoplastic ischia,
Iliac crest serration,
Large fontanelles,
Low-set ears,
Metaphyseal cupping,
Micromelia,
Microtia,
Narrow chest,
Prominent forehead,
Pulmonary arterial hypertension,
Round face,
Severe platyspondyly,
Short long bone,
Short neck,
Short nose,
Short ribs,
Short stature,
Small for gestational age,
Spondylometaphyseal dysplasia,
Squared iliac bones,
Tachypnea,
Vascular dilatation,
Wide nose,
Wormian bones
[+]
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Mouse (3 sources):
embryonic lethality prior to organogenesis,
prenatal lethality prior to heart atrial septation,
preweaning lethality, complete penetrance
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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.