NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918265
rs121918265
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage. 28167679 2017
dbSNP: rs121918268
rs121918268
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage. 28167679 2017
dbSNP: rs587784000
rs587784000
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage. 28167679 2017
dbSNP: rs587784024
rs587784024
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage. 28167679 2017
dbSNP: rs587784025
rs587784025
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage. 28167679 2017
dbSNP: rs587784036
rs587784036
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage. 28167679 2017
dbSNP: rs587784042
rs587784042
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage. 28167679 2017
dbSNP: rs80358376
rs80358376
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage. 28167679 2017
dbSNP: rs587784024
rs587784024
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		A 0.800 CausalMutation CLINVAR NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR. 26725122 2016
dbSNP: rs80358376
rs80358376
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		T 0.800 CausalMutation CLINVAR NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR. 26725122 2016
dbSNP: rs121918265
rs121918265
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. 25447906 2015
dbSNP: rs121918268
rs121918268
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. 25447906 2015
dbSNP: rs587784000
rs587784000
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. 25447906 2015
dbSNP: rs587784024
rs587784024
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. 25447906 2015
dbSNP: rs587784025
rs587784025
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. 25447906 2015
dbSNP: rs587784036
rs587784036
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. 25447906 2015
dbSNP: rs587784042
rs587784042
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. 25447906 2015
dbSNP: rs80358376
rs80358376
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. 25447906 2015
dbSNP: rs121918265
rs121918265
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. 23254390 2013
dbSNP: rs121918268
rs121918268
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. 23254390 2013
dbSNP: rs587784000
rs587784000
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. 23254390 2013
dbSNP: rs587784024
rs587784024
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. 23254390 2013
dbSNP: rs587784025
rs587784025
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. 23254390 2013
dbSNP: rs587784036
rs587784036
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		0.800 GeneticVariation UNIPROT Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. 23254390 2013
dbSNP: rs587784036
rs587784036
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		A 0.800 CausalMutation CLINVAR High rate of mosaicism in individuals with Cornelia de Lange syndrome. 23505322 2013