| Monarch Ortholog Phenotypes
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Human (54 sources):
Abnormal aldolase level,
Abnormal cerebellar vermis morphology,
Abnormal circulating creatine kinase concentration,
Abnormal circulating lactate dehydrogenase concentration,
Abnormal cortical gyration,
Abnormality of neuronal migration,
Abnormality of the optic nerve,
Absent septum pellucidum,
Agenesis of corpus callosum,
Anophthalmia,
Aplasia/Hypoplasia involving the skeletal musculature,
Areflexia,
Bifid uvula,
Cataract,
Cerebellar dysplasia,
Cerebellar hypoplasia,
Chorioretinal dysplasia,
Cleft palate,
Corneal opacity,
Cryptorchidism,
Dandy-Walker malformation,
Glaucoma,
Global developmental delay,
Gonadal dysgenesis,
Hydrocephalus,
Hypoplasia of penis,
Hyporeflexia,
Hypotonia,
Intellectual disability,
Iris coloboma,
Lissencephaly,
Low-set ears,
Macrocephaly,
Metatarsus valgus,
Microcephaly,
Microcornea,
Microphthalmia,
Muscle weakness,
Muscular dystrophy,
Optic atrophy,
Pachygyria,
Polymicrogyria,
Posteriorly rotated ears,
Protruding ear,
Retinal detachment,
Retinal dysplasia,
Retinal dystrophy,
Seizure,
Skeletal muscle atrophy,
Specific learning disability,
Submucous cleft hard palate,
Type II lissencephaly,
Ventriculomegaly,
obsolete Macrogyria
[+]
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Mouse (7 sources):
abnormal chorioallantoic fusion,
abnormal embryo turning,
abnormal locomotor activation,
abnormal tail bud morphology,
impaired righting response,
limb grasping,
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.