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:	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

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:	10309
Gene Symbol:	CCNO

CCNO

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.

24824133

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:	221421
Gene Symbol:	RSPH9

RSPH9

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

24307375

2014

Entrez Id:	1769
Gene Symbol:	DNAH8

DNAH8

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

GeneticVariation

CLINVAR

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

24307375

2014

Entrez Id:	54919
Gene Symbol:	DNAAF5

DNAAF5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

GeneticVariation

CLINVAR

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.

25232951

2014

Entrez Id:	339829
Gene Symbol:	CCDC39

CCDC39

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

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

24498942

2014

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:	89765
Gene Symbol:	RSPH1

RSPH1

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

24518672

2014