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 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 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 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: C0004096
Disease: Asthma
Asthma 		0.100 Biomarker disease 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: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		0.100 Biomarker disease HPO
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.100 Biomarker disease HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 Biomarker disease HPO
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		0.100 Biomarker disease HPO
CUI: C0029883
Disease: Otitis Media with Effusion
Otitis Media with Effusion 		0.100 Biomarker disease HPO
CUI: C0032285
Disease: Pneumonia
Pneumonia 		0.100 Biomarker disease HPO
CUI: C0035455
Disease: Rhinitis
Rhinitis 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0149516
Disease: Chronic sinusitis
Chronic sinusitis 		0.100 Biomarker disease HPO