DisGeNET - a database of gene-disease associations

Ellis-Van Creveld Syndrome, C0013903

Variant: rs121908426 ×

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:

rs121908426

EVC

0.700

GeneticVariation

CLINVAR

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

23220543

2013

dbSNP:

rs121908426

EVC

0.700

GeneticVariation

CLINVAR

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

17024374

2007

dbSNP:

rs121908426

EVC

0.700

GeneticVariation

CLINVAR

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

10700184

2000

dbSNP:

rs121908426

EVC

0.700

CausalMutation

CLINVAR