rs773801386, CCDC39

N. diseases: 2
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 Motility Disorders
CUI: C0008780
Disease: Ciliary Motility Disorders
0.700 CausalMutation 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 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
Ciliary Motility Disorders
CUI: C0008780
Disease: Ciliary Motility Disorders
0.700 CausalMutation CLINVAR Multinuclear NMR investigations of probe construction materials at 4.7 T. 2325550 1990