DisGeNET - a database of gene-disease associations

Overgrowth, C1849265

Variant: rs1554499814 ×

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:

rs1554499814

EZH2

0.700

GeneticVariation

CLINVAR

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

24214728

2013

dbSNP:

rs1554499814

EZH2

0.700

GeneticVariation

CLINVAR

Mutations in EZH2 cause Weaver syndrome.

22177091

2012

dbSNP:

rs1554499814

EZH2

0.700

GeneticVariation

CLINVAR

Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

22604720

2012

dbSNP:

rs1554499814

EZH2

0.700

GeneticVariation

CLINVAR

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

22190405

2011

dbSNP:

rs1554499814

EZH2

0.700

GeneticVariation

CLINVAR

Weaver syndrome: autosomal dominant inheritance of the disorder.

9781912

1998