Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
0.130 CausalMutation group CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532 2017
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
0.130 CausalMutation group CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942 2014
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
0.130 CausalMutation group CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
0.130 CausalMutation group CLINVAR Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
0.130 CausalMutation group CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285 2013
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
0.130 CausalMutation group CLINVAR Umbilical bile staining in a patient with gall-bladder perforation. 22693295 2011
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
0.130 CausalMutation group 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