Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome. 28102598

2017
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Phenotypes and genotypes in individuals with SMC1A variants. 28548707

2017
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. 26752331

2016
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing. 26354354

2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Clinical utility gene card for: Cornelia de Lange syndrome. 25537356

2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 26358754

2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 26386245

2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes. 23106691

2012
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. 22106055

2012
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. 20635401

2010
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. 19842212

2010
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071

2006
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes. 7757074

1995