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 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 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 		0.310 GeneticVariation 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 		0.310 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 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 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009