DNAL1, dynein axonemal light chain 1, 83544

N. diseases: 45; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151460
Disease: CILIARY DYSKINESIA, PRIMARY, 16
CILIARY DYSKINESIA, PRIMARY, 16 		0.700 GeneticVariation disease UNIPROT Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. 21496787 2011
CUI: C3151460
Disease: CILIARY DYSKINESIA, PRIMARY, 16
CILIARY DYSKINESIA, PRIMARY, 16 		0.700 Biomarker disease GENOMICS_ENGLAND Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. 21496787 2011
CUI: C3151460
Disease: CILIARY DYSKINESIA, PRIMARY, 16
CILIARY DYSKINESIA, PRIMARY, 16 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151460
Disease: CILIARY DYSKINESIA, PRIMARY, 16
CILIARY DYSKINESIA, PRIMARY, 16 		0.700 CausalMutation disease CLINVAR
CUI: C3151460
Disease: CILIARY DYSKINESIA, PRIMARY, 16
CILIARY DYSKINESIA, PRIMARY, 16 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151460
Disease: CILIARY DYSKINESIA, PRIMARY, 16
CILIARY DYSKINESIA, PRIMARY, 16 		0.700 Biomarker disease CTD_human
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 		0.310 GeneticVariation disease BEFREE Although it has long been suspected that mutations in DNAL1 encoding the ODA light chain1 might cause PCD such mutations were not found. 21496787 2011
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation group CLINVAR Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. 21496787 2011
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.100 CausalMutation disease CLINVAR Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. 21496787 2011
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		0.100 Biomarker phenotype HPO
CUI: C0004096
Disease: Asthma
Asthma 		0.100 Biomarker disease HPO
CUI: C0004144
Disease: Atelectasis
Atelectasis 		0.100 Biomarker phenotype HPO
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic 		0.100 Biomarker disease HPO
CUI: C0008711
Disease: Chronic rhinitis
Chronic rhinitis 		0.100 Biomarker disease HPO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation group CLINVAR
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 Biomarker group HPO
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		0.100 Biomarker disease HPO
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.100 Biomarker disease HPO
CUI: C0010200
Disease: Coughing
Coughing 		0.100 Biomarker phenotype HPO