Human (56 sources):
Abnormal facial shape,
Aplasia/Hypoplasia of the cerebellum,
Bile duct proliferation,
Calcific stippling,
Cerebral dysmyelination,
Cerebral hypoplasia,
Cholestasis,
Corpus callosum atrophy,
Cortical dysplasia,
Decreased muscle mass,
Decreased nerve conduction velocity,
Delayed cranial suture closure,
Delayed skeletal maturation,
Depressed nasal bridge,
Dolichocephaly,
Elevated circulating hepatic transaminase concentration,
Epicanthus,
Failure to thrive,
Feeding difficulties in infancy,
Fetal ascites,
Frontal bossing,
Generalized cerebral atrophy/hypoplasia,
Gliosis,
Global developmental delay,
Hammertoe,
Hepatic steatosis,
Hepatomegaly,
High forehead,
High palate,
Hypertelorism,
Hypoplasia of the corpus callosum,
Large fontanelles,
Long philtrum,
Low-set ears,
Macrocephaly,
Micrognathia,
Neonatal hypotonia,
Nystagmus,
Osteopenia,
Pectus excavatum,
Polyhydramnios,
Polymicrogyria,
Primary adrenal insufficiency,
Renal cyst,
Retrognathia,
Scaphocephaly,
Seizure,
Split hand,
Strabismus,
Talipes equinovarus,
Thoracic hypoplasia,
Undetectable electroretinogram,
Upslanted palpebral fissure,
Ventriculomegaly,
Visual impairment,
Visual loss
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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.