Symbol Name ID |
Cfap53
cilia and flagella associated protein 53 MGI:1921703 |
Darker colors indicate more annotations |
Human Phenotypes | Dextrocardia |
Situs inversus totalis |
Mesocardia |
Left atrial isomerism |
Right atrial isomerism |
Atrial septal defect |
Patent foramen ovale |
Common atrium |
Ventricular septal defect |
Atrioventricular canal defect |
Complete atrioventricular canal defect |
Unbalanced atrioventricular canal defect |
Subvalvular aortic stenosis |
Single ventricle |
Mitral atresia |
Double outlet right ventricle |
Transposition of the great arteries |
Dextrotransposition of the great arteries |
Cardiomegaly |
Hypoplastic left heart |
Right aortic arch |
Hypoplastic aortic arch |
Coarctation of aorta |
Pulmonary artery atresia |
Total anomalous pulmonary venous return |
Interrupted inferior vena cava with azygous continuation |
Bilateral superior vena cava |
Left superior vena cava draining to coronary sinus |
Patent ductus arteriosus |
Mitral stenosis |
Pulmonic stenosis |
Asplenia |
Ectopia of the spleen |
Polysplenia |
Disease(s) Associated with CFAP53 | ||||||||||||||||||||||||||||||||||
visceral heterotaxy |
Mouse Phenotypes | abnormal vertebral artery topology |
inverse situs of great intrathoracic arteries |
dilated liver sinusoidal space |
abnormal placental labyrinth vasculature morphology |
abnormal azygos vein topology |
symmetric azygos veins |
abnormal ductus venosus valve morphology |
absent ductus venosus valve |
hepatic portal vein stenosis |
abnormal superior mesenteric vein topology |
absent intrahepatic inferior vena cava segment |
dual inferior vena cava |
double outlet left ventricle |
anomalous pulmonary venous connection |
double inlet heart right ventricle |
abnormal inferior vena cava valve morphology |
common atrium |
perimembraneous ventricular septal defect |
muscular ventricular septal defect |
placenta hemorrhage |
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Availability | Mouse Genotype | ||||||||||||||||||||
Cfap53em1(IMPC)Wtsi/Cfap53em1(IMPC)Wtsi |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 09/03/2024 MGI 6.24 |
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