CCDC65, coiled-coil domain containing 65, 85478

N. diseases: 46; N. variants: 2
Disease: Ciliary Motility Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223325
rs863223325
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 GeneticVariation CLINVAR Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. 25802884 2015
dbSNP: rs863223325
rs863223325
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 GeneticVariation CLINVAR Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744 2013
dbSNP: rs863223325
rs863223325
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 GeneticVariation CLINVAR CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. 23991085 2013