DNAH9, dynein axonemal heavy chain 9, 1770

N. diseases: 22; N. variants: 4
Disease: CILIARY DYSKINESIA, PRIMARY, 40 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4749028
Disease: CILIARY DYSKINESIA, PRIMARY, 40
CILIARY DYSKINESIA, PRIMARY, 40 		0.500 GeneticVariation disease UNIPROT Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. 30471717 2018
CUI: C4749028
Disease: CILIARY DYSKINESIA, PRIMARY, 40
CILIARY DYSKINESIA, PRIMARY, 40 		0.500 Biomarker disease GENOMICS_ENGLAND Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. 30471718 2018
CUI: C4749028
Disease: CILIARY DYSKINESIA, PRIMARY, 40
CILIARY DYSKINESIA, PRIMARY, 40 		0.500 GeneticVariation disease UNIPROT Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. 30471718 2018