Human (67 sources):
Abnormal cardiovascular system morphology,
Abnormality of neuronal migration,
Abnormality of the hypothalamus-pituitary axis,
Aganglionic megacolon,
Agenesis of cerebellar vermis,
Anteverted nares,
Aplasia/Hypoplasia of the cerebellar vermis,
Aplasia/Hypoplasia of the corpus callosum,
Apnea,
Ataxia,
Autistic behavior,
Behavioral abnormality,
Biparietal narrowing,
Blindness,
Brainstem dysplasia,
Cerebellar vermis hypoplasia,
Chorioretinal coloboma,
Coloboma,
Dandy-Walker malformation,
Dilated fourth ventricle,
Dyspnea,
Encephalocele,
Foot polydactyly,
Generalized hypotonia,
Global developmental delay,
Gray matter heterotopia,
Hand polydactyly,
Hepatic fibrosis,
Hepatic steatosis,
Hepatomegaly,
Highly arched eyebrow,
Hydrocephalus,
Hypoplasia of the brainstem,
Hypotonia,
Intellectual disability,
Intellectual disability, progressive,
Intellectual disability, severe,
Iris coloboma,
Long face,
Low-set, posteriorly rotated ears,
Molar tooth sign on MRI,
Nephronophthisis,
Nephropathy,
Nystagmus,
Occipital meningocele,
Oculomotor apraxia,
Polycystic kidney dysplasia,
Polydactyly,
Postaxial foot polydactyly,
Postaxial hand polydactyly,
Prominent nasal bridge,
Psychomotor retardation,
Ptosis,
Renal corticomedullary cysts,
Renal cyst,
Renal insufficiency,
Renal tubular atrophy,
Retinal dystrophy,
Scoliosis,
Seizure,
Stage 5 chronic kidney disease,
Strabismus,
Tachypnea,
Tubulointerstitial fibrosis,
Undetectable electroretinogram,
Visual impairment,
Wide mouth
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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.