Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.130 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.130 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014

Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.130 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013

Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.130 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

Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.130 CausalMutation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285

2013

Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.130 CausalMutation CLINVAR Umbilical bile staining in a patient with gall-bladder perforation. 22693295

2011

Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.130 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