| Monarch Ortholog Phenotypes
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Human (54 sources):
Abnormal cardiovascular system morphology,
Abnormal cerebellar vermis morphology,
Abnormal cerebellum morphology,
Abnormal facial shape,
Abnormal sacrum morphology,
Abnormality of brain morphology,
Abnormality of coagulation,
Abnormality of skin pigmentation,
Ataxia,
Brachycephaly,
Bulbous nose,
Capillary hemangioma,
Cataract,
Cerebellar atrophy,
Cerebellar vermis hypoplasia,
Coloboma,
Cutis laxa,
Decreased response to growth hormone stimulation test,
Depressed nasal bridge,
Eczema,
Elbow flexion contracture,
Elevated hepatic transaminase,
Generalized hypotonia,
Global developmental delay,
Hyperkeratosis,
Hypertelorism,
Hypertrichosis,
Hypothyroidism,
Hypotonia,
Ichthyosis,
Infantile muscular hypotonia,
Intellectual disability,
Intellectual disability, progressive,
Intellectual disability, severe,
Iris coloboma,
Knee flexion contracture,
Kyphosis,
Low-set ears,
Microcytic anemia,
Motor delay,
Nystagmus,
Optic atrophy,
Optic disc hypoplasia,
Palmoplantar keratoderma,
Polymicrogyria,
Reduced antithrombin III activity,
Rod-cone dystrophy,
Seizure,
Spotty hyperpigmentation,
Thick lower lip vermilion,
Thoracic kyphosis,
Type I transferrin isoform profile,
Visual loss,
Wide nasal bridge
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Mouse (11 sources):
abnormal embryo size,
abnormal embryo turning,
abnormal pericardium morphology,
abnormal tail bud morphology,
abnormal ventral body wall morphology,
dilated heart,
embryonic lethality during organogenesis, complete penetrance,
embryonic lethality prior to tooth bud stage,
failure of initiation of embryo turning,
open neural tube,
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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.