DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Ciliary Motility Disorders ×

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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:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

GeneticVariation

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:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

CausalMutation

CLINVAR

Ciliary function and motor protein composition of human fallopian tubes.

26373788

2015

Entrez Id:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

GeneticVariation

CLINVAR

Ciliary function and motor protein composition of human fallopian tubes.

26373788

2015

Entrez Id:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

CausalMutation

CLINVAR

Interhemispheric transfer of plasticity in the cerebral cortex.

2389146

1990

Entrez Id:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

CausalMutation

CLINVAR

The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.

24498942

2014

Entrez Id:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

CausalMutation

CLINVAR

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

19357118

2009

Entrez Id:	64446
Gene Symbol:	DNAI2

DNAI2

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.300

CausalMutation

CLINVAR

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

23891469

2013

Entrez Id:	64446
Gene Symbol:	DNAI2

DNAI2

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.300

GeneticVariation

CLINVAR

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.

18950741

2008

Entrez Id:	64446
Gene Symbol:	DNAI2

DNAI2

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.300

CausalMutation

CLINVAR

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

23261302

2013

Entrez Id:	64446
Gene Symbol:	DNAI2

DNAI2

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.300

CausalMutation

CLINVAR

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

25802884

2015

Entrez Id:	100533483
Gene Symbol:	DNAAF4-CCPG1

DNAAF4-CCPG1

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

GeneticVariation

CLINVAR

Entrez Id:	100528020
Gene Symbol:	FAM187A

FAM187A

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

23891469

2013

Entrez Id:	55036
Gene Symbol:	CCDC40

CCDC40

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

23255504

2013

Entrez Id:	339829
Gene Symbol:	CCDC39

CCDC39

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:	55036
Gene Symbol:	CCDC40

CCDC40

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.

22693285

2012

Entrez Id:	55536
Gene Symbol:	CDCA7L

CDCA7L

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

GeneticVariation

CLINVAR

Entrez Id:	85478
Gene Symbol:	CCDC65

CCDC65

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

GeneticVariation

CLINVAR

CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.

23991085

2013

Entrez Id:	51314
Gene Symbol:	NME8

NME8

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Entrez Id:	83544
Gene Symbol:	DNAL1

DNAL1

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

GeneticVariation

CLINVAR

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

21496787

2011

Entrez Id:	55536
Gene Symbol:	CDCA7L

CDCA7L

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Entrez Id:	55036
Gene Symbol:	CCDC40

CCDC40

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.

21131974

2011

Entrez Id:	100533483
Gene Symbol:	DNAAF4-CCPG1

DNAAF4-CCPG1

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Entrez Id:	55130
Gene Symbol:	ARMC4

ARMC4

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

23849778

2013

Entrez Id:	388389
Gene Symbol:	CCDC103

CCDC103

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

23891469

2013

Entrez Id:	221421
Gene Symbol:	RSPH9

RSPH9

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

23993197

2013