Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 CausalMutation CLINVAR CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature. 25619595

2016

Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014

Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 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: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 GeneticVariation 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: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013

Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 CausalMutation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285

2012

Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 CausalMutation CLINVAR High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. 22499950

2012

Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 GeneticVariation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285

2012

Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 CausalMutation CLINVAR The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 21131974

2011

Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 GeneticVariation CLINVAR The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 21131974

2011