CCDC40, coiled-coil domain containing 40, 55036

N. diseases: 49; N. variants: 29
Disease: Kartagener Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.340 GeneticVariation disease BEFREE Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.340 GeneticVariation disease BEFREE Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285 2012
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.340 Biomarker disease CTD_human The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 21131974 2011