DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Ciliary Motility Disorders ×

Variant: rs575017579 ×

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:

rs575017579

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

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

27618201

2016

dbSNP:

rs575017579

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:

rs575017579

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

23891469

2013

dbSNP:

rs575017579

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

19357118

2009