Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756235547
rs756235547
CCDC39
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 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: rs756235547
rs756235547
CCDC39
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
dbSNP: rs756235547
rs756235547
CCDC39
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285

2012
dbSNP: rs756235547
rs756235547
CCDC39
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 21131972

2011