Gene: SMC1A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 GeneticVariation group 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 		0.100 GeneticVariation group CLINVAR Phenotypes and genotypes in individuals with SMC1A variants. 28548707 2017
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 GeneticVariation group 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 		0.100 GeneticVariation group 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 		0.100 GeneticVariation group CLINVAR Clinical utility gene card for: Cornelia de Lange syndrome. 25537356 2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 GeneticVariation group CLINVAR Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 26358754 2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 GeneticVariation group CLINVAR Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 26386245 2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 GeneticVariation group CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 GeneticVariation group 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 		0.100 GeneticVariation group 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 		0.100 GeneticVariation group 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 		0.100 GeneticVariation group 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 		0.100 GeneticVariation group 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 		0.100 GeneticVariation group 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 		0.100 GeneticVariation group CLINVAR X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071 2006
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 GeneticVariation group CLINVAR The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes. 7757074 1995