Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9126
Gene Symbol: SMC3
SMC3 		0.300 Biomarker disease CTD_human
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.300 Biomarker disease CTD_human
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		0.300 Biomarker disease CTD_human
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		0.100 CausalMutation disease CLINVAR
Entrez Id: 6878
Gene Symbol: TAF6
TAF6 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 CausalMutation disease CLINVAR
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 Biomarker disease GENOMICS_ENGLAND de Lange syndrome: a clinical review of 310 individuals. 8291537 1993
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 Biomarker disease GENOMICS_ENGLAND Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. 11391654 2001
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 GeneticVariation disease 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
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 GeneticVariation disease UNIPROT Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. 15146186 2004
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 GeneticVariation disease CLINVAR NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 15318302 2004
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 CausalMutation disease CLINVAR NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 15318302 2004
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 GeneticVariation disease UNIPROT NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 15318302 2004
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 CausalMutation disease CLINVAR Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. 16100726 2005
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 CausalMutation disease CLINVAR Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. 16236812 2006
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 CausalMutation disease CLINVAR Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. 17221863 2007
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 CausalMutation disease CLINVAR Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. 17661813 2007
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 GeneticVariation disease CLINVAR Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. 17661813 2007
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 Biomarker disease CTD_human Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. 19763162 2009
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 Biomarker disease CTD_human Cornelia de Lange syndrome: description of the orofacial features and case report. 19886366 2008
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 GeneticVariation disease UNIPROT Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations. 20124326 2010
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 GeneticVariation disease 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
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 CausalMutation disease CLINVAR Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. 20824775 2010
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 GeneticVariation disease UNIPROT Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. 21934712 2012
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 CausalMutation disease CLINVAR Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. 23254390 2013