Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.120 GeneticVariation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.120 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.120 CausalMutation CLINVAR Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. 23261303

2013

Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.120 CausalMutation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013