DNAAF3, dynein axonemal assembly factor 3, 352909

N. diseases: 84; N. variants: 11
Disease: Hydrocephalus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.120 Biomarker disease BEFREE Knockdown of dnaaf3 in zebrafish likewise disrupts dynein arm assembly and ciliary motility, causing primary ciliary dyskinesia phenotypes that include hydrocephalus and laterality malformations. 22387996 2012
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.120 Biomarker disease BEFREE A genetic error of the respiratory cilia (9 + 2) is the cause of the airways disease named immotile-cilia syndrome (or PCD), whereas defective ependymal cilia (9 + 2) carries an increased risk of hydrocephalus. 15495266 2004
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.120 Biomarker disease HPO