Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | CausalMutation | group | CLINVAR | Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. | 27637300 | 2016 | ||||
|
0.100 | CausalMutation | group | CLINVAR | The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. | 24498942 | 2014 | ||||
|
0.100 | CausalMutation | group | CLINVAR | Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. | 25186273 | 2014 | ||||
|
0.100 | CausalMutation | group | CLINVAR | ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. | 23891469 | 2013 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. | 23255504 | 2013 | ||||
|
0.100 | CausalMutation | group | CLINVAR | Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. | 23255504 | 2013 | ||||
|
0.100 | CausalMutation | group | CLINVAR | Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. | 22693285 | 2012 | ||||
|
0.100 | CausalMutation | group | CLINVAR | 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 | ||||
|
0.100 | CausalMutation | group | CLINVAR | Umbilical bile staining in a patient with gall-bladder perforation. | 22693295 | 2011 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | 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 | ||||
|
0.100 | CausalMutation | group | CLINVAR | Multinuclear NMR investigations of probe construction materials at 4.7 T. | 2325550 | 1990 |