Gene: CCDC103 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103 		0.100 CausalMutation group CLINVAR High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. 28790179 2018
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103 		0.100 CausalMutation group CLINVAR Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 27637300 2016
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103 		0.100 CausalMutation group CLINVAR A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. 26123568 2015
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103 		0.100 CausalMutation group CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103 		0.100 CausalMutation group CLINVAR Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. 24357714 2013
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103 		0.100 CausalMutation group CLINVAR CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 22581229 2012
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103 		0.100 GeneticVariation group CLINVAR