CCDC39, coiled-coil domain containing 39, 339829

N. diseases: 56; N. variants: 49
Disease: CILIARY DYSKINESIA, PRIMARY, 14 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
CILIARY DYSKINESIA, PRIMARY, 14 		0.900 GeneticVariation disease CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942 2014
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
CILIARY DYSKINESIA, PRIMARY, 14 		0.900 GeneticVariation disease UNIPROT Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273 2014
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
CILIARY DYSKINESIA, PRIMARY, 14 		0.900 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
CILIARY DYSKINESIA, PRIMARY, 14 		0.900 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: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
CILIARY DYSKINESIA, PRIMARY, 14 		0.900 Biomarker disease GENOMICS_ENGLAND Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
CILIARY DYSKINESIA, PRIMARY, 14 		0.900 GeneticVariation disease UNIPROT Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
CILIARY DYSKINESIA, PRIMARY, 14 		0.900 GeneticVariation disease CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
CILIARY DYSKINESIA, PRIMARY, 14 		0.900 GeneticVariation disease UNIPROT Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285 2012
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
CILIARY DYSKINESIA, PRIMARY, 14 		0.900 Biomarker disease GENOMICS_ENGLAND CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 21131972 2011
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
CILIARY DYSKINESIA, PRIMARY, 14 		0.900 GeneticVariation disease UNIPROT CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 21131972 2011
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
CILIARY DYSKINESIA, PRIMARY, 14 		0.900 CausalMutation disease CLINVAR
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
CILIARY DYSKINESIA, PRIMARY, 14 		0.900 Biomarker disease MGD
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
CILIARY DYSKINESIA, PRIMARY, 14 		0.900 Biomarker disease CTD_human