Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.310 GeneticVariation CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2014
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.310 GeneticVariation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.310 GeneticVariation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.310 GeneticVariation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.310 GeneticVariation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.310 GeneticVariation CLINVAR The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey. 24905662

2015
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.310 GeneticVariation CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.310 GeneticVariation CLINVAR Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 11788826

2002
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.310 GeneticVariation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.310 GeneticVariation CLINVAR Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. 21270641

2011
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.310 GeneticVariation CLINVAR Ciliary function and motor protein composition of human fallopian tubes. 26373788

2015
Entrez Id: 64446
Gene Symbol: DNAI2
DNAI2
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.300 GeneticVariation CLINVAR DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. 18950741

2008
Entrez Id: 100533483
Gene Symbol: DNAAF4-CCPG1
DNAAF4-CCPG1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 55536
Gene Symbol: CDCA7L
CDCA7L
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. 23991085

2013
Entrez Id: 83544
Gene Symbol: DNAL1
DNAL1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. 21496787

2011
Entrez Id: 100528020
Gene Symbol: FAM187A
FAM187A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). 21143860

2010
Entrez Id: 161582
Gene Symbol: DNAAF4
DNAAF4
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 6103
Gene Symbol: RPGR
RPGR
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 123872
Gene Symbol: DNAAF1
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. 19944405

2009
Entrez Id: 1769
Gene Symbol: DNAH8
DNAH8
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. 24307375

2014
Entrez Id: 54919
Gene Symbol: DNAAF5
DNAAF5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. 25232951

2014
Entrez Id: 10309
Gene Symbol: CCNO
CCNO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR