rs773801386, CCDC39

N. diseases: 2
Disease: CILIARY DYSKINESIA, PRIMARY, 14 ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CILIARY DYSKINESIA, PRIMARY, 14
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
0.700 GeneticVariation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942 2014
CILIARY DYSKINESIA, PRIMARY, 14
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
0.700 GeneticVariation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
CILIARY DYSKINESIA, PRIMARY, 14
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
0.700 GeneticVariation CLINVAR Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013