rs587784000, NIPBL

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cornelia de Lange Syndrome 1
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
Cornelia de Lange Syndrome 1
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
Cornelia de Lange Syndrome 1
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
Cornelia de Lange Syndrome 1
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
0.800 GeneticVariation UNIPROT Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. 21934712 2012
Cornelia de Lange Syndrome 1
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
0.800 GeneticVariation UNIPROT Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations. 20124326 2010
Cornelia de Lange Syndrome 1
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
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
Cornelia de Lange Syndrome 1
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
0.800 GeneticVariation UNIPROT Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. 15146186 2004
Cornelia de Lange Syndrome 1
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
0.800 GeneticVariation UNIPROT NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 15318302 2004
Cornelia de Lange Syndrome 1
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
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
Cornelia de Lange Syndrome 1
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
0.800 GeneticVariation CLINVAR
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
0.700 GeneticVariation CLINVAR
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 GeneticVariation CLINVAR