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 | Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. | 25802884 | 2015 | ||||
|
0.100 | CausalMutation | group | CLINVAR | Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. | 26139845 | 2015 | ||||
|
0.100 | CausalMutation | group | CLINVAR | Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. | 24450482 | 2014 | ||||
|
0.100 | CausalMutation | group | CLINVAR | Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. | 22184204 | 2012 | ||||
|
0.100 | CausalMutation | group | CLINVAR | Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD. | 22102620 | 2012 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. | 22184204 | 2012 | ||||
|
0.100 | CausalMutation | group | CLINVAR | New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. | 20513915 | 2010 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. | 20513915 | 2010 | ||||
|
0.100 | CausalMutation | group | CLINVAR | Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. | 18022865 | 2008 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. | 18022865 | 2008 |