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

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

16627867

2006

Entrez Id:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

CausalMutation

CLINVAR

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

16627867

2006

Entrez Id:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

CausalMutation

CLINVAR

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

11788826

2002

Entrez Id:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

GeneticVariation

CLINVAR

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

11788826

2002

Entrez Id:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

CausalMutation

CLINVAR

[Study of anti-ischemic action of carnitine chloride and its effects on the effectiveness of antianginal agents].

2127064

1990

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:	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:	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

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

GeneticVariation

CLINVAR

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

18950741

2008

Entrez Id:	27019
Gene Symbol:	DNAI1

DNAI1

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.

29363216

2018

Entrez Id:	100528020
Gene Symbol:	FAM187A

FAM187A

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.

28790179

2018

Entrez Id:	388389
Gene Symbol:	CCDC103

CCDC103

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.

28790179

2018

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:	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:	10309
Gene Symbol:	CCNO

CCNO

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.

26777464

2016

Entrez Id:	100528020
Gene Symbol:	FAM187A

FAM187A

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:	27019
Gene Symbol:	DNAI1

DNAI1

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.

26918822

2016

Entrez Id:	55036
Gene Symbol:	CCDC40

CCDC40

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.

25619595

2016

Entrez Id:	388389
Gene Symbol:	CCDC103

CCDC103

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:	100528020
Gene Symbol:	FAM187A

FAM187A

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.

26123568

2015

Entrez Id:	345895
Gene Symbol:	RSPH4A

RSPH4A

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.

25789548

2015

Entrez Id:	388389
Gene Symbol:	CCDC103

CCDC103

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.

26123568

2015

Entrez Id:	10309
Gene Symbol:	CCNO

CCNO

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

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

25802884

2015