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 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 Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. 24124034 2013
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 GeneticVariation disease UNIPROT Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. 17221863 2007
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 GeneticVariation disease UNIPROT Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. 18996922 2009
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 Biomarker disease GENOMICS_ENGLAND X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071 2006
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 Biomarker disease GENOMICS_ENGLAND Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 26358754 2015
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 Biomarker disease GENOMICS_ENGLAND