Human (53 sources):
Abnormal pulmonary valve morphology,
Abnormality of the lower limb,
Abnormality of the upper limb,
Absent fingernail,
Absent hand,
Aplasia cutis congenita,
Aplasia/Hypoplasia of the skin,
Aplastic/hypoplastic toenail,
Arteriovenous malformation,
Ascites,
Atrial septal defect,
Brachydactyly,
Calvarial skull defect,
Cataract,
Cirrhosis,
Congenital hepatic fibrosis,
Cutis marmorata,
EEG abnormality,
Encephalocele,
Esophageal varix,
Failure to thrive,
Finger aplasia,
Finger syndactyly,
Gastrointestinal hemorrhage,
Hemiparesis,
Hydrocephalus,
Hypoplastic fingernail,
Hypoplastic toenails,
Intellectual disability,
Leukopenia,
Microphthalmia,
Patent ductus arteriosus,
Periventricular leukomalacia,
Porencephalic cyst,
Portal hypertension,
Premature birth,
Pulmonary arterial hypertension,
Pulmonary artery atresia,
Seizure,
Short distal phalanx of finger,
Short toe,
Sparse hair,
Spasticity,
Split hand,
Strabismus,
Talipes equinovarus,
Tetralogy of Fallot,
Thrombocytopenia,
Toenail dysplasia,
Umbilical hernia,
Ventricular septal defect,
obsolete Abnormality of the metacarpal bones,
obsolete Hypotrichosis
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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.