| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. | 26139845 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. | 11788826 | 2002 |
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|
A | 0.700 | CausalMutation | CLINVAR | ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. | 23891469 | 2013 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. | 24498942 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. | 22416021 | 2012 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. | 25186273 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. | 19357118 | 2009 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. | 23891469 | 2013 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia. | 27618201 | 2016 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. | 11788826 | 2002 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. | 16627867 | 2006 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. | 19357118 | 2009 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. | 23477994 | 2013 |
|||
|
A | 0.700 | CausalMutation | CLINVAR |