DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Ciliary Motility Disorders ×

Variant: rs769458738 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs769458738

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

Ciliary function and motor protein composition of human fallopian tubes.

26373788

2015

dbSNP:

rs769458738

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

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

24498942

2014

dbSNP:

rs769458738

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.

22499950

2012