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
0.400 GeneticVariation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.400 CausalMutation CLINVAR Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia. 27618201

2017

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.400 CausalMutation CLINVAR Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia. 27779714

2017

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.400 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.400 CausalMutation CLINVAR An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. 26228299

2016

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.400 CausalMutation CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845

2016

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.400 CausalMutation CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2015

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

2015

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.400 CausalMutation 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
0.400 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
0.400 CausalMutation 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
0.400 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
0.400 CausalMutation CLINVAR Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. 22416021

2013

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.400 CausalMutation 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
0.400 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.400 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
0.400 CausalMutation CLINVAR High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. 22499950

2012

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.400 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
0.400 CausalMutation 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
0.400 CausalMutation 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
0.400 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
0.400 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
0.400 CausalMutation 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
0.400 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
0.400 CausalMutation CLINVAR Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 11788826

2002