Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103
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: 388389
Gene Symbol: CCDC103
CCDC103
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 CausalMutation 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
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 CausalMutation CLINVAR CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 22581229

2012

Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 CausalMutation 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
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 GeneticVariation CLINVAR

Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 CausalMutation 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
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 CausalMutation CLINVAR Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 27637300

2016