DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Ciliary Motility Disorders ×

Gene: DNAAF5 ×

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:	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:	54919
Gene Symbol:	DNAAF5

DNAAF5

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

CausalMutation

CLINVAR

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.

23040496

2012