DisGeNET - a database of gene-disease associations

Ellis-Van Creveld Syndrome, C0013903

Variant: rs200300612 ×

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:

rs200300612

EVC2

0.700

GeneticVariation

CLINVAR

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

23220543

2013

dbSNP:

rs200300612

EVC2

0.700

CausalMutation

CLINVAR

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

23220543

2013

dbSNP:

rs200300612

EVC2

0.700

GeneticVariation

CLINVAR

Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.

19251731

2009

dbSNP:

rs200300612

EVC2

0.700

GeneticVariation

CLINVAR

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

17024374

2007

dbSNP:

rs200300612

EVC2

0.700

CausalMutation

CLINVAR

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

17024374

2007