DisGeNET - a database of gene-disease associations

Cornelia de Lange Syndrome 1, C4551851

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:

rs121918265

NIPBL

0.800

GeneticVariation

UNIPROT

Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage.

28167679

2017

dbSNP:

rs121918268

NIPBL

0.800

GeneticVariation

UNIPROT

Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage.

28167679

2017

dbSNP:

rs587784000

NIPBL

0.800

GeneticVariation

UNIPROT

Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage.

28167679

2017

dbSNP:

rs587784024

NIPBL

0.800

GeneticVariation

UNIPROT

Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage.

28167679

2017

dbSNP:

rs587784025

NIPBL

0.800

GeneticVariation

UNIPROT

Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage.

28167679

2017

dbSNP:

rs587784036

NIPBL

0.800

GeneticVariation

UNIPROT

Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage.

28167679

2017

dbSNP:

rs587784042

NIPBL

0.800

GeneticVariation

UNIPROT

Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage.

28167679

2017

dbSNP:

rs80358376

NIPBL

0.800

GeneticVariation

UNIPROT

Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage.

28167679

2017

dbSNP:

rs587784024

NIPBL

0.800

CausalMutation

CLINVAR

NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.

26725122

2016

dbSNP:

rs80358376

NIPBL

0.800

CausalMutation

CLINVAR

NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.

26725122

2016

dbSNP:

rs121918265

NIPBL

0.800

GeneticVariation

UNIPROT

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

25447906

2015

dbSNP:

rs121918268

NIPBL

0.800

GeneticVariation

UNIPROT

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

25447906

2015

dbSNP:

rs587784000

NIPBL

0.800

GeneticVariation

UNIPROT

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

25447906

2015

dbSNP:

rs587784024

NIPBL

0.800

GeneticVariation

UNIPROT

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

25447906

2015

dbSNP:

rs587784025

NIPBL

0.800

GeneticVariation

UNIPROT

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

25447906

2015

dbSNP:

rs587784036

NIPBL

0.800

GeneticVariation

UNIPROT

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

25447906

2015

dbSNP:

rs587784042

NIPBL

0.800

GeneticVariation

UNIPROT

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

25447906

2015

dbSNP:

rs80358376

NIPBL

0.800

GeneticVariation

UNIPROT

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

25447906

2015

dbSNP:

rs121918265

NIPBL

0.800

GeneticVariation

UNIPROT

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

23254390

2013

dbSNP:

rs121918268

NIPBL

0.800

GeneticVariation

UNIPROT

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

23254390

2013

dbSNP:

rs587784000

NIPBL

0.800

GeneticVariation

UNIPROT

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

23254390

2013

dbSNP:

rs587784024

NIPBL

0.800

GeneticVariation

UNIPROT

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

23254390

2013

dbSNP:

rs587784025

NIPBL

0.800

GeneticVariation

UNIPROT

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

23254390

2013

dbSNP:

rs587784036

NIPBL

0.800

GeneticVariation

UNIPROT

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

23254390

2013

dbSNP:

rs587784036

NIPBL

0.800

CausalMutation

CLINVAR

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

23505322

2013