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 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 CausalMutation disease CLINVAR 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 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 GeneticVariation disease CLINVAR 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: 9126
Gene Symbol: SMC3
SMC3 		0.300 Biomarker disease CTD_human