CCDC39, coiled-coil domain containing 39, 339829

N. diseases: 56; N. variants: 49
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 		0.230 Biomarker disease BEFREE MCIDAS mutant respiratory epithelial cells carry only one or two cilia per cell, which lack ciliary motility-related proteins (DNAH5; CCDC39) as seen in primary ciliary dyskinesia. 25048963 2014
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.230 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 		0.230 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 		0.230 Biomarker disease MGD