Human (72 sources):
Abnormal pulmonary valve morphology,
Abnormality of the lower limb,
Abnormality of the upper limb,
Absent fingernail,
Absent hand,
Aortic valve stenosis,
Aplasia cutis congenita,
Aplasia cutis congenita on trunk or limbs,
Aplasia cutis congenita over posterior parietal area,
Aplasia/Hypoplasia of the skin,
Aplastic/hypoplastic toenail,
Arteriovenous malformation,
Ascites,
Atrial septal defect,
Bicuspid aortic valve,
Brachydactyly,
Calvarial skull defect,
Cataract,
Cirrhosis,
Cleft palate,
Cleft upper lip,
Congenital hepatic fibrosis,
Cortical dysplasia,
Cutis marmorata,
EEG abnormality,
Encephalocele,
Esophageal varix,
Esotropia,
Failure to thrive,
Finger aplasia,
Finger syndactyly,
Gastrointestinal hemorrhage,
Generalized hypotonia,
Global developmental delay,
Hemiparesis,
Hydrocephalus,
Hypertension,
Hypoplasia of the corpus callosum,
Hypoplastic fingernail,
Hypoplastic left heart,
Hypotonia,
Imperforate hymen,
Intellectual disability,
Leukopenia,
Microcephaly,
Microphthalmia,
Pachygyria,
Periventricular leukomalacia,
Polymicrogyria,
Porencephalic cyst,
Portal hypertension,
Premature birth,
Pulmonary arterial hypertension,
Pulmonary artery atresia,
Pulmonary artery stenosis,
Pulmonic stenosis,
Seizure,
Short distal phalanx of finger,
Small nail,
Sparse hair,
Spasticity,
Split hand,
Strabismus,
Supernumerary nipple,
Talipes equinovarus,
Tetralogy of Fallot,
Thrombocytopenia,
Toe syndactyly,
Ventricular septal defect,
Ventriculomegaly,
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.