DNAI1, dynein axonemal intermediate chain 1, 27019

N. diseases: 89; N. variants: 20
Disease: Kartagener Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.560 Biomarker disease BEFREE Bronchial epithelial reticular basement membrane (RBM) thickening occurs in diseases with both eosinophilic (allergic bronchial asthma [BA]) and neutrophilic (cystic fibrosis [CF] and primary ciliary dyskinesia [PCD]) chronic airway inflammation; however, the lung function and airway remodeling relation remains unclear. 31711989 2019
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.560 Biomarker disease MGD Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis. 24306492 2014
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.560 Biomarker disease BEFREE Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. 22416021 2012
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.560 Biomarker disease CTD_human Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. 19675306 2010
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.560 GeneticVariation disease BEFREE Recessive mutations in Dynein Axonemal Intermediate chain type 1 (DNAI1) gene have been described in 10% of cases of Primary Ciliary Dyskinesia. 19300481 2009
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.560 GeneticVariation disease BEFREE We screened a large group of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients and their siblings (148 patients from 126 unrelated families) for the presence of the CFTR mutations that are most frequently found in the Polish population: the severe F508del and 2,3del21kb, and the mild 3849+10kbC > T. No statistically significant increase in the frequency of these mutations was found in the studied group, as compared with the general population. 17272866 2007
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.560 GeneticVariation disease BEFREE Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015 2006
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.560 GeneticVariation disease BEFREE Finally, this study demonstrates a link between ciliary function and situs determination, since compound mutation heterozygosity in DNAI1 results in PCD with situs solitus or situs inversus (KS). 11231901 2001