DNAI2, dynein axonemal intermediate chain 2, 64446

N. diseases: 49; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676235
Disease: CILIARY DYSKINESIA, PRIMARY, 9
CILIARY DYSKINESIA, PRIMARY, 9 		0.600 GeneticVariation disease CLINVAR Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. 25802884 2015
CUI: C2676235
Disease: CILIARY DYSKINESIA, PRIMARY, 9
CILIARY DYSKINESIA, PRIMARY, 9 		0.600 GeneticVariation disease CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302 2013
CUI: C2676235
Disease: CILIARY DYSKINESIA, PRIMARY, 9
CILIARY DYSKINESIA, PRIMARY, 9 		0.600 CausalMutation disease CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
CUI: C2676235
Disease: CILIARY DYSKINESIA, PRIMARY, 9
CILIARY DYSKINESIA, PRIMARY, 9 		0.600 CausalMutation disease CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302 2013
CUI: C2676235
Disease: CILIARY DYSKINESIA, PRIMARY, 9
CILIARY DYSKINESIA, PRIMARY, 9 		0.600 Biomarker disease GENOMICS_ENGLAND DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. 18950741 2008
CUI: C2676235
Disease: CILIARY DYSKINESIA, PRIMARY, 9
CILIARY DYSKINESIA, PRIMARY, 9 		0.600 Biomarker disease CTD_human
CUI: C2676235
Disease: CILIARY DYSKINESIA, PRIMARY, 9
CILIARY DYSKINESIA, PRIMARY, 9 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.400 Biomarker disease HPO
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.340 GeneticVariation disease BEFREE ARMC4 gene expression is upregulated during ciliogenesis, and we found a predicted interaction with the outer dynein arm protein DNAI2, mutations in which also cause PCD. 24203976 2014
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.340 GeneticVariation disease BEFREE In the remaining 5 individuals with PCD who underwent exome sequencing, we identified mutations in two genes (DNAI2, DNAH5) known to cause PCD, including an Ashkenazi Jewish founder mutation in DNAI2. 23261302 2013
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.340 GeneticVariation disease BEFREE Applying a positional and functional candidate-gene approach, we identified homozygous loss-of-function DNAI2 mutations (IVS11+1G > A) in four individuals from a family with PCD and ODA defects. 18950741 2008
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.340 Biomarker disease BEFREE Following the same strategy, we have characterized DNAI2, a human gene related to Chlamzydomonas IC69, and evaluated its possible involvement in a PCD population characterized by an absence of outer dynein arms. 11153919 2000
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.340 Biomarker disease GENOMICS_ENGLAND
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.340 Biomarker disease GENOMICS_ENGLAND
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.300 CausalMutation group CLINVAR Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. 25802884 2015
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.300 CausalMutation group CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.300 CausalMutation group CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302 2013
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.300 GeneticVariation group CLINVAR DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. 18950741 2008
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.300 Biomarker group HPO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.300 Biomarker group MGD
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.220 GeneticVariation disease LHGDN DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. 18950741 2008
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.220 GeneticVariation disease BEFREE DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. 18950741 2008