FOXJ1, forkhead box J1, 2302

N. diseases: 61; N. variants: 2
Disease: Kartagener Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.510 GermlineCausalMutation disease ORPHANET De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. 31630787 2019
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.510 Biomarker disease BEFREE The human FOXJ1 gene which maps to chromosome 17q, is thus an excellent candidate gene for Kartagener Syndrome (KS), a subphenotype of Primary Ciliary Dyskinesia (PCD), characterized by bronchiectasis, chronic sinusitis and situs inversus. 11060460 2000
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.510 Biomarker disease MGD