DNAH11, dynein axonemal heavy chain 11, 8701

N. diseases: 110; N. variants: 109
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 		0.900 GeneticVariation disease UNIPROT Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273 2014
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD. 22102620 2012
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 		0.900 GeneticVariation disease UNIPROT Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. 18022865 2008
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 		0.900 GeneticVariation disease UNIPROT Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. 12142464 2002
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 		0.900 Biomarker disease MGD Abnormal nodal flow precedes situs inversus in iv and inv mice. 10549278 1999
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 		0.900 CausalMutation disease CLINVAR
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 		0.900 Biomarker disease CTD_human
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 		0.900 GeneticVariation disease CLINVAR
CUI: C4552030
Disease: Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus 		0.700 Biomarker disease MGD Abnormal nodal flow precedes situs inversus in iv and inv mice. 10549278 1999
CUI: C4552030
Disease: Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4552030
Disease: Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus 		0.700 Biomarker disease CTD_human
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.410 GeneticVariation disease BEFREE Fisher's exact test revealed a significant association of DNAH11 variants with CHD and heterotaxy (P = 0.0001). 31040315 2019
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.410 Biomarker disease BEFREE 82 exons and intron/exon junctions in DNAH11 were sequenced in 163 unrelated patients with a clinical phenotype of PCD, including those with normal ciliary ultrastructure (n=58), defects in outer and/or inner dynein arms (n=76), radial spoke/central pair defects (n=6), and 23 without definitive ultrastructural results, but who had situs inversus (n=17), or bronchiectasis and/or low nasal nitric oxide (n=6). 22184204 2012
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.410 GeneticVariation disease GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.410 Biomarker disease CTD_human Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 19060911 2009
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.410 Biomarker disease GENOMICS_ENGLAND
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.410 Biomarker disease GENOMICS_ENGLAND
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.410 Biomarker disease HPO
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.400 GeneticVariation disease BEFREE Pathogenic mutations were identified in three families (n = 3/33, 9.1%), including mutations in DNAH11, RAF1 and CHD7, which were associated with primary ciliary dyskinesia, Noonan syndrome, and CHARGE syndrome, respectively. 30359267 2018
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.400 Biomarker disease BEFREE Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11. 29467202 2018
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.400 GeneticVariation disease BEFREE Airway ciliated cells were collected from two patients with PCD with DNAH11 nonsense mutations and altered ciliary beating and pattern. 26729821 2016
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.400 Biomarker disease BEFREE DNAH11 retained proximal localization in respiratory cilia of individuals with PCD with distinct ultrastructural defects, such as the absence of outer dynein arms (ODAs). 26909801 2016
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.400 GeneticVariation disease BEFREE The DNAH5 and DNAH11 genes were the most common cause of PCD in Italy, but some population specificities were identified. 27637300 2016
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.400 GeneticVariation disease BEFREE At the lead site, nNO was prospectively measured in individuals later confirmed to have PCD by ciliary ultrastructural defects (n = 143) or DNAH11 mutations (n = 6); and in 78 healthy and 146 disease control subjects, including individuals with asthma (n = 37), cystic fibrosis (n = 77), and chronic obstructive pulmonary disease (n = 32). 24024753 2013