DNAH5, dynein axonemal heavy chain 5, 1767

N. diseases: 93; N. variants: 137
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79967166
rs79967166
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease:
CILIARY DYSKINESIA, PRIMARY, 3 		0.800 GeneticVariation UNIPROT Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273 2014
dbSNP: rs79967166
rs79967166
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease:
CILIARY DYSKINESIA, PRIMARY, 3 		0.800 GeneticVariation UNIPROT DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867 2006
dbSNP: rs79967166
rs79967166
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease:
CILIARY DYSKINESIA, PRIMARY, 3 		0.800 GeneticVariation UNIPROT Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 11788826 2002
dbSNP: rs79967166
rs79967166
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease:
CILIARY DYSKINESIA, PRIMARY, 3 		0.800 GeneticVariation UNIPROT Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene. 11062149 2000
dbSNP: rs79967166
rs79967166
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease:
CILIARY DYSKINESIA, PRIMARY, 3 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1161303371
rs1161303371
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. 26228299 2016
dbSNP: rs138890576
rs138890576
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. 26228299 2016
dbSNP: rs138890576
rs138890576
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C4025100
Disease:
Abnormal respiratory motile cilium morphology 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs138890576
rs138890576
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C4551493
Disease:
Situs inversus totalis 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs138890576
rs138890576
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease:
CILIARY DYSKINESIA, PRIMARY, 3 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs548521732
rs548521732
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease:
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 27637300 2016
dbSNP: rs575017579
rs575017579
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease:
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia. 27618201 2016
dbSNP: rs745918507
rs745918507
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease:
CILIARY DYSKINESIA, PRIMARY, 3 		A 0.700 GeneticVariation CLINVAR Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 27637300 2016
dbSNP: rs752925056
rs752925056
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease:
Ciliary Motility Disorders 		AT 0.700 CausalMutation CLINVAR An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. 26228299 2016
dbSNP: rs753130398
rs753130398
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 27637300 2016
dbSNP: rs753130398
rs753130398
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. 26228299 2016
dbSNP: rs755136231
rs755136231
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease:
CILIARY DYSKINESIA, PRIMARY, 3 		A 0.700 CausalMutation CLINVAR An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. 26228299 2016
dbSNP: rs7720298
rs7720298
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0600139
Disease:
Prostate carcinoma 		G 0.700 GeneticVariation GWASCAT Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer. 27515689 2016
dbSNP: rs773711154
rs773711154
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease:
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia. 27779714 2016
dbSNP: rs1305797678
rs1305797678
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 GeneticVariation CLINVAR The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey. 24905662 2015
dbSNP: rs200901816
rs200901816
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease:
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845 2015
dbSNP: rs6881967
rs6881967
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		A 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs6881967
rs6881967
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0016529
Disease:
Forced expiratory volume function 		A 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs727502973
rs727502973
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease:
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR Ciliary function and motor protein composition of human fallopian tubes. 26373788 2015
dbSNP: rs727502973
rs727502973
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease:
Ciliary Motility Disorders 		C 0.700 GeneticVariation CLINVAR Ciliary function and motor protein composition of human fallopian tubes. 26373788 2015