DNAAF3, dynein axonemal assembly factor 3, 352909

N. diseases: 84; N. variants: 11
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847554
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 		0.900 GeneticVariation disease UNIPROT Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. 22387996 2012
CUI: C1847554
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. 22387996 2012
CUI: C1847554
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 		0.900 Biomarker disease CTD_human
CUI: C1847554
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 		0.900 CausalMutation disease CLINVAR
CUI: C1847554
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 		0.900 Biomarker disease MGD
CUI: C1847554
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1847554
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND