DisGeNET - a database of gene-disease associations

Dysmorphic features, C0432072

Variant: rs1554404013 ×

Source: CURATED ×

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:

rs1554404013

RELN

0.700

CausalMutation

CLINVAR

RELN rare variants in myoclonus-dystonia.

25648840

2015

dbSNP:

rs1554404013

RELN

0.700

CausalMutation

CLINVAR

Whole-genome sequencing of quartet families with autism spectrum disorder.

25621899

2015

dbSNP:

rs1554404013

RELN

0.700

CausalMutation

CLINVAR

Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.

26046367

2015

dbSNP:

rs1554404013

RELN

0.700

CausalMutation

CLINVAR

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

24267886

2013

dbSNP:

rs1554404013

RELN

0.700

CausalMutation

CLINVAR

The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population.

17955477

2008

dbSNP:

rs1554404013

RELN

0.700

CausalMutation

CLINVAR

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.

17431900

2007

dbSNP:

rs1554404013

RELN

0.700

CausalMutation

CLINVAR

The role of RELN in lissencephaly and neuropsychiatric disease.

16958033

2007

dbSNP:

rs1554404013

RELN

0.700

CausalMutation

CLINVAR

Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.

11748497

2001

dbSNP:

rs1554404013

RELN

0.700

CausalMutation

CLINVAR

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.

10973257

2000