FOXJ1, forkhead box J1, 2302

N. diseases: 61; N. variants: 2
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.300 GermlineCausalMutation disease ORPHANET De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. 31630787 2019