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 CausalMutation CLINVAR [Study of anti-ischemic action of carnitine chloride and its effects on the effectiveness of antianginal agents]. 2127064

1990

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.310 CausalMutation CLINVAR Interhemispheric transfer of plasticity in the cerebral cortex. 2389146

1990

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.310 CausalMutation 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 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 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 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
0.310 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 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
0.310 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
0.310 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 CausalMutation CLINVAR Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. 22416021

2012

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.310 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
0.310 CausalMutation 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 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 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
0.310 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 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
0.310 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 CausalMutation CLINVAR A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family. 24150548

2014

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 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
0.310 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 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 CausalMutation 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 CausalMutation CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845

2015