| Monarch Ortholog Phenotypes
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Human (37 sources):
Abnormal bleeding,
Abnormal megakaryocyte morphology,
Abnormal platelet granules,
Aminoaciduria,
Aortic regurgitation,
Ataxia,
Cellulitis,
Clinodactyly,
Decreased platelet glycoprotein Ib,
Deeply set eye,
Dysarthria,
Encephalopathy,
Flat occiput,
Generalized hypotonia,
Giant platelets,
Global developmental delay,
Hyporeflexia,
Hypotelorism,
Hypoxemia,
Intellectual disability,
Macrothrombocytopenia,
Microcephaly,
Neutropenia,
Nystagmus,
Orofacial dyskinesia,
Pneumonia,
Poor speech,
Prolonged bleeding time,
Proteinuria,
Pulmonary hemorrhage,
Recurrent bacterial infections,
Respiratory distress,
Seizure,
Short philtrum,
Subcutaneous hemorrhage,
Thrombocytopenia,
Webbed neck
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Mouse (1 source):
preweaning lethality, complete penetrance
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View all ortholog results at Monarch
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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.