Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.300 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: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 Biomarker disease GENOMICS_ENGLAND 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: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 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: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 GeneticVariation disease UNIPROT Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 17273969 2007
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 CausalMutation disease CLINVAR Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 17273969 2007
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 GeneticVariation disease CLINVAR Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 17273969 2007
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 CausalMutation disease CLINVAR Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 26386245 2015