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:	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:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

CausalMutation

CLINVAR

Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.

27779714

2016

Entrez Id:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

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:	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:	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:	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:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

CausalMutation

CLINVAR

Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia.

27618201

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:	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:	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

An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.

26228299

2016

Entrez Id:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

CausalMutation

CLINVAR

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

26139845

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

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

26139845

2015

Entrez Id:	89765
Gene Symbol:	RSPH1

RSPH1

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:	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:	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:	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:	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:	85478
Gene Symbol:	CCDC65

CCDC65

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

GeneticVariation

CLINVAR

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

25802884

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