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: C0271441
Disease: Chronic otitis media
Chronic otitis media 		0.100 Biomarker disease HPO
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		0.100 Biomarker disease HPO
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		0.100 Biomarker disease HPO
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		0.100 Biomarker disease HPO
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		0.100 Biomarker disease HPO
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: 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: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		0.100 Biomarker phenotype HPO
CUI: C0004144
Disease: Atelectasis
Atelectasis 		0.100 Biomarker phenotype HPO
CUI: C0010200
Disease: Coughing
Coughing 		0.100 Biomarker phenotype HPO
CUI: C0018520
Disease: Halitosis
Halitosis 		0.100 Biomarker phenotype HPO
CUI: C0018681
Disease: Headache
Headache 		0.100 Biomarker phenotype HPO
CUI: C0021359
Disease: Infertility
Infertility 		0.100 Biomarker phenotype 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: C0231835
Disease: Tachypnea
Tachypnea 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.100 Biomarker phenotype HPO
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: C4022989
Disease: Absent outer dynein arms
Absent outer dynein arms 		0.100 Biomarker phenotype HPO
CUI: C4703436
Disease: Impaired nasal mucociliary clearance
Impaired nasal mucociliary clearance 		0.100 Biomarker phenotype HPO