DisGeNET - a database of gene-disease associations

SMC1A, structural maintenance of chromosomes 1A, 8243

N. diseases: 251; N. variants: 53

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057518670

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057519398

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057519398

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1843367
Disease:

Poor school performance

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057519499

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057521921

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C0270972
Disease:

Cornelia De Lange Syndrome

0.010

GeneticVariation

BEFREE

Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

26354354

2015

dbSNP:

rs122454122

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

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

dbSNP:

rs122454122

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

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

dbSNP:

rs122454122

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

GeneticVariation

UNIPROT

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

17221863

2007

dbSNP:

rs122454122

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

GeneticVariation

UNIPROT

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

16604071

2006

dbSNP:

rs122454122

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs122454122

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

GeneticVariation

UNIPROT

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

20635401

2010

dbSNP:

rs122454122

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

GeneticVariation

UNIPROT

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

24124034

2013

dbSNP:

rs122454122

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

GeneticVariation

UNIPROT

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.

18996922

2009

dbSNP:

rs122454122

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

GeneticVariation

UNIPROT

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.

19701948

2009

dbSNP:

rs122454123

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

GeneticVariation

UNIPROT

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.

18996922

2009

dbSNP:

rs122454123

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

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

dbSNP:

rs122454123

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

GeneticVariation

UNIPROT

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

20635401

2010

dbSNP:

rs122454123

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

GeneticVariation

UNIPROT

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

17221863

2007

dbSNP:

rs122454123

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

GeneticVariation

UNIPROT

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.

19701948

2009

dbSNP:

rs122454123

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

GeneticVariation

UNIPROT

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

24124034

2013

dbSNP:

rs122454123

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

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

dbSNP:

rs122454123

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

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

dbSNP:

rs122454123

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

GeneticVariation

UNIPROT

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

16604071

2006

dbSNP:

rs122454123

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.800

CausalMutation

CLINVAR

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

30158690

2019

dbSNP:

rs1556885815

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

CUI:	C1802395
Disease:

Congenital muscular hypertrophy-cerebral syndrome

0.700

GeneticVariation

CLINVAR