Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358376
rs80358376
NIPBL
0.800 GeneticVariation UNIPROT Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage. 28167679

2017
dbSNP: rs80358376
rs80358376
NIPBL
T 0.800 CausalMutation CLINVAR NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR. 26725122

2016
dbSNP: rs80358376
rs80358376
NIPBL
0.800 GeneticVariation UNIPROT Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. 25447906

2015
dbSNP: rs80358376
rs80358376
NIPBL
0.800 GeneticVariation UNIPROT Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. 23254390

2013
dbSNP: rs80358376
rs80358376
NIPBL
T 0.800 CausalMutation CLINVAR Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. 23254390

2013
dbSNP: rs80358376
rs80358376
NIPBL
0.800 GeneticVariation UNIPROT Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. 21934712

2012
dbSNP: rs80358376
rs80358376
NIPBL
0.800 GeneticVariation UNIPROT Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations. 20124326

2010
dbSNP: rs80358376
rs80358376
NIPBL
0.800 GeneticVariation UNIPROT Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. 20358602

2010
dbSNP: rs80358376
rs80358376
NIPBL
T 0.800 CausalMutation CLINVAR Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. 17661813

2007
dbSNP: rs80358376
rs80358376
NIPBL
T 0.800 CausalMutation CLINVAR Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. 16100726

2005
dbSNP: rs80358376
rs80358376
NIPBL
T 0.800 CausalMutation CLINVAR NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 15318302

2004
dbSNP: rs80358376
rs80358376
NIPBL
0.800 GeneticVariation UNIPROT Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. 15146186

2004
dbSNP: rs80358376
rs80358376
NIPBL
0.800 GeneticVariation UNIPROT NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 15318302

2004
dbSNP: rs80358376
rs80358376
NIPBL
0.800 GeneticVariation UNIPROT NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. 15146185

2004
dbSNP: rs80358376
rs80358376
NIPBL
G 0.800 CausalMutation CLINVAR