Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		GT 0.700 CausalMutation CLINVAR Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients. 29363216

2018
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		GT 0.700 CausalMutation CLINVAR DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. 26918822

2016
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		GT 0.700 CausalMutation CLINVAR DNAI1 mutations explain only 2% of primary ciliary dykinesia. 18434704

2008
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		GT 0.700 CausalMutation CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015

2006
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		GT 0.700 CausalMutation CLINVAR Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 11231901

2001
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		GT 0.700 CausalMutation CLINVAR Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. 10577904

1999