CCDC40, coiled-coil domain containing 40, 55036

N. diseases: 49; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
CILIARY DYSKINESIA, PRIMARY, 15 		0.600 GeneticVariation disease CLINVAR Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
CILIARY DYSKINESIA, PRIMARY, 15 		0.600 CausalMutation disease CLINVAR Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
CILIARY DYSKINESIA, PRIMARY, 15 		0.600 CausalMutation disease CLINVAR High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. 22499950 2012
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
CILIARY DYSKINESIA, PRIMARY, 15 		0.600 GeneticVariation disease CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285 2012
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
CILIARY DYSKINESIA, PRIMARY, 15 		0.600 CausalMutation disease CLINVAR The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 21131974 2011
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
CILIARY DYSKINESIA, PRIMARY, 15 		0.600 Biomarker disease GENOMICS_ENGLAND The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 21131974 2011
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
CILIARY DYSKINESIA, PRIMARY, 15 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
CILIARY DYSKINESIA, PRIMARY, 15 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
CILIARY DYSKINESIA, PRIMARY, 15 		0.600 Biomarker disease CTD_human
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 Biomarker disease CTD_human The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 21131974 2011
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.400 Biomarker disease HPO
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GeneticVariation disease CLINVAR
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 CausalMutation disease CLINVAR
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.370 GeneticVariation disease BEFREE Mutations in more than 20 genes including the Coiled-Coil Domain Containing 40 (<i>CCDC40</i>) gene are associated with PCD. 29456554 2018
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.370 GeneticVariation disease BEFREE This case report illustrates the severe spectrum of lung disease associated with coiled-coil domain containing protein 40 (CCDC40) gene variants in patients with PCD. 30209139 2018
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.370 GeneticVariation disease BEFREE Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD). 30296669 2018
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.370 GeneticVariation disease BEFREE By applying a whole-exome sequencing strategy, we reported a case of PCD carrying a novel mutant alleles in CCDC40 gene, and did literature review. 25619595 2016
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.370 Biomarker disease BEFREE Together, these findings highlight the key role of CCDC39 and CCDC40 in PCD with axonemal disorganization and IDA loss, and these genes represent major candidates for genetic testing in families affected by this ciliary phenotype. 23255504 2013
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.370 GeneticVariation disease BEFREE Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285 2012
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.370 GeneticVariation disease BEFREE CCDC40 localizes to motile cilia and the apical cytoplasm and is required for axonemal recruitment of CCDC39, disruption of which underlies a similar variant of PCD. 21131974 2011
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.370 Biomarker disease GENOMICS_ENGLAND
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.340 GeneticVariation disease BEFREE Severe disease due to CCDC40 gene variants and the perils of late diagnosis in primary ciliary dyskinesia. 30209139 2018
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.340 GeneticVariation disease BEFREE CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature. 25619595 2016