Human (63 sources):
Abnormal biliary tract morphology,
Abnormal liver parenchyma morphology,
Abnormality of bone mineral density,
Abnormality of retinal pigmentation,
Abnormality of the pancreas,
Aortic valve stenosis,
Asplenia,
Ataxia,
Atrial septal defect,
Bile duct proliferation,
Biliary cirrhosis,
Cataract,
Cholestasis,
Choroid plexus cyst,
Chronic kidney disease,
Cirrhosis,
Cone-shaped epiphysis,
Congenital hepatic fibrosis,
Dandy-Walker malformation,
Enlarged kidney,
Enuresis,
Global developmental delay,
Hepatic cysts,
Hepatic fibrosis,
Hepatomegaly,
Hepatosplenomegaly,
High forehead,
Hypertension,
Hypertrophic cardiomyopathy,
Intestinal malrotation,
Large fontanelles,
Multicystic kidney dysplasia,
Multiple glomerular cysts,
Nephronophthisis,
Oligohydramnios,
Pancreatic cysts,
Pancreatic fibrosis,
Patent ductus arteriosus,
Polycystic kidney dysplasia,
Polydipsia,
Polyhydramnios,
Polysplenia,
Polyuria,
Portal hypertension,
Postaxial foot polydactyly,
Potter facies,
Premature ovarian insufficiency,
Progressive visual loss,
Pulmonary hypoplasia,
Pulmonic stenosis,
Renal corticomedullary cysts,
Renal dysplasia,
Renal insufficiency,
Renal tubular atrophy,
Retinal dystrophy,
Right ventricular hypertrophy,
Short stature,
Situs inversus totalis,
Spasticity,
Stage 5 chronic kidney disease,
Tubulointerstitial fibrosis,
Ureteral atresia,
Visual impairment
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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.