DisGeNET - a database of gene-disease associations

Overgrowth, C1849265

Variant: rs781469274 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs781469274

DNAH5

0.700

CausalMutation

CLINVAR

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

23261302

2013

dbSNP:

rs781469274

DNAH5

0.700

CausalMutation

CLINVAR

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

24267886

2013

dbSNP:

rs781469274

DNAH5

0.700

CausalMutation

CLINVAR

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

19357118

2009

dbSNP:

rs781469274

DNAH5

0.700

CausalMutation

CLINVAR

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

16627867

2006

dbSNP:

rs781469274

DNAH5

0.700

CausalMutation

CLINVAR

Lateralization defects and ciliary dyskinesia: lessons from algae.

12615011

2003

dbSNP:

rs781469274

DNAH5

0.700

CausalMutation

CLINVAR

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

11788826

2002