DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Ciliary Motility Disorders ×

Gene: DNAH11 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	8701
Gene Symbol:	DNAH11

DNAH11

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

27637300

2016

Entrez Id:	8701
Gene Symbol:	DNAH11

DNAH11

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.

25802884

2015

Entrez Id:	8701
Gene Symbol:	DNAH11

DNAH11

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

26139845

2015

Entrez Id:	8701
Gene Symbol:	DNAH11

DNAH11

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

24450482

2014

Entrez Id:	8701
Gene Symbol:	DNAH11

DNAH11

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

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

22184204

2012

Entrez Id:	8701
Gene Symbol:	DNAH11

DNAH11

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD.

22102620

2012

Entrez Id:	8701
Gene Symbol:	DNAH11

DNAH11

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

GeneticVariation

CLINVAR

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

22184204

2012

Entrez Id:	8701
Gene Symbol:	DNAH11

DNAH11

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

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

20513915

2010

Entrez Id:	8701
Gene Symbol:	DNAH11

DNAH11

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

GeneticVariation

CLINVAR

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

20513915

2010

Entrez Id:	8701
Gene Symbol:	DNAH11

DNAH11

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

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

18022865

2008

Entrez Id:	8701
Gene Symbol:	DNAH11

DNAH11

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

GeneticVariation

CLINVAR

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

18022865

2008