DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Ciliary Motility Disorders ×

Variant: rs1175443221 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1175443221

DNAH11

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

22184204

2012

dbSNP:

rs1175443221

DNAH11

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure.

20513915

2010

dbSNP:

rs1175443221

DNAH11

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.

18022865

2008