DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Ciliary Motility Disorders ×

Variant: rs752925056 ×

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:

rs752925056

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

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

26228299

2016

dbSNP:

rs752925056

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

25186273

2014

dbSNP:

rs752925056

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

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

11788826

2002