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: 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: C0032987
Disease: Ectopic Pregnancy
Ectopic Pregnancy
0.100 Biomarker phenotype HPO
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency
0.100 Biomarker phenotype 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
CUI: C0231835
Disease: Tachypnea
Tachypnea
0.100 Biomarker phenotype HPO
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media
0.100 Biomarker disease HPO
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
0.100 Biomarker disease HPO
Delayed speech and language development
0.100 Biomarker phenotype HPO
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
0.100 Biomarker phenotype HPO
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen
0.100 Biomarker disease HPO
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive
0.100 Biomarker group HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
0.100 Biomarker phenotype HPO
CUI: C1855672
Disease: Immotile cilia
Immotile cilia
0.100 Biomarker phenotype HPO
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
0.100 Biomarker phenotype HPO
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
0.100 Biomarker phenotype HPO
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility
0.100 Biomarker disease HPO
CUI: C4022989
Disease: Absent outer dynein arms
Absent outer dynein arms
0.100 Biomarker phenotype HPO
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis
0.100 Biomarker disease HPO
Impaired nasal mucociliary clearance
0.100 Biomarker phenotype HPO
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.010 Biomarker disease LHGDN Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients. 15845866 2005
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