Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients. 29363216

2018
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. 26918822

2016
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. 21270641

2011
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). 21143860

2010
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. 19675306

2010
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR DNAI1 mutations explain only 2% of primary ciliary dykinesia. 18434704

2008
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015

2006
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015

2006
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 11231901

2001
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia. 11713099

2001
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 11231901

2001
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. 10577904

1999