Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515393
rs397515393
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature. 25619595

2016
dbSNP: rs397515393
rs397515393
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
dbSNP: rs397515393
rs397515393
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504

2013
dbSNP: rs397515393
rs397515393
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. 22499950

2012
dbSNP: rs397515393
rs397515393
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285

2012
dbSNP: rs397515393
rs397515393
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 21131974

2011