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
0.110 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.110 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
0.110 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
0.110 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
0.110 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
0.110 CausalMutation CLINVAR These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated. 22581229

2012