DisGeNET - a database of gene-disease associations

Saethre-Chotzen Syndrome, C0175699

Variant: rs1554442019 ×

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:

rs1554442019

TWIST1

0.700

GeneticVariation

CLINVAR

LOVD v.2.0: the next generation in gene variant databases.

21520333

2011

dbSNP:

rs1554442019

TWIST1

0.700

GeneticVariation

CLINVAR

Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.

17693524

2007

dbSNP:

rs1554442019

TWIST1

0.700

GeneticVariation

CLINVAR

Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

15923834

2005

dbSNP:

rs1554442019

TWIST1

0.700

GeneticVariation

CLINVAR

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

9585583

1998