Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 CausalMutation CLINVAR Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 26386245

2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 Biomarker 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
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 GeneticVariation CLINVAR Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. 25125236

2014
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 GeneticVariation 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
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 Biomarker 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
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 GeneticVariation UNIPROT 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: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 GeneticVariation 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
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 AlteredExpression BEFREE SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. 19701948

2009
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 CausalMutation CLINVAR SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. 19701948

2009
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 GeneticVariation UNIPROT SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. 19701948

2009
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 GeneticVariation UNIPROT Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. 18996922

2009
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 GeneticVariation BEFREE 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: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 GeneticVariation 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
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 CausalMutation 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: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 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: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 GeneticVariation 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
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 CausalMutation 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: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 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: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 GeneticVariation BEFREE X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071

2006
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 Biomarker GENOMICS_ENGLAND X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071

2006
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.730 GeneticVariation UNIPROT X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071

2006