DNAH11, dynein axonemal heavy chain 11, 8701

N. diseases: 110; N. variants: 109
Disease: Ciliary Motility Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368260932
rs368260932
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845 2015
dbSNP: rs368260932
rs368260932
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. 24450482 2014
dbSNP: rs368260932
rs368260932
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD. 22102620 2012