Human (53 sources):
Abnormal cardiovascular system morphology,
Abnormal form of the vertebral bodies,
Abnormal pattern of respiration,
Abnormal vertebral morphology,
Abnormality of neuronal migration,
Abnormality of the hypothalamus-pituitary axis,
Aganglionic megacolon,
Agenesis of corpus callosum,
Ambiguous genitalia,
Anteverted nares,
Aplasia/Hypoplasia of the corpus callosum,
Apnea,
Ataxia,
Biparietal narrowing,
Cerebellar vermis hypoplasia,
Cleft palate,
Dextrocardia,
Encephalocele,
Episodic tachypnea,
Feeding difficulties,
Feeding difficulties in infancy,
Foot polydactyly,
Gait disturbance,
Generalized hypotonia,
Global developmental delay,
Hand polydactyly,
Highly arched eyebrow,
Hydrocephalus,
Hypotonia,
Intellectual disability,
Iris coloboma,
Long face,
Low-set ears,
Low-set, posteriorly rotated ears,
Micropenis,
Molar tooth sign on MRI,
Nephronophthisis,
Nystagmus,
Oculomotor apraxia,
Orofacial cleft,
Polydactyly,
Polymicrogyria,
Prominent nasal bridge,
Ptosis,
Retinal coloboma,
Retinal dystrophy,
Retinopathy,
Scoliosis,
Seizure,
Situs inversus totalis,
Strabismus,
Tremor,
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.