Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 220136
Gene Symbol: CFAP53
CFAP53
0.110 GeneticVariation disease BEFREE We show that cfap53 is required for cilia rotation specifically in Kupffer's vesicle, the zebrafish laterality organ, providing a mechanism by which patients with CFAP53 mutations develop dextrocardia and heterotaxy, and confirming previous evidence that left-right asymmetry in humans is regulated through cilia-driven fluid flow in a laterality organ. 26531781 2016
Entrez Id: 220136
Gene Symbol: CFAP53
CFAP53
0.110 GeneticVariation disease CLINVAR A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function. 26531781 2016
Entrez Id: 220136
Gene Symbol: CFAP53
CFAP53
0.110 Biomarker disease HPO