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:

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:

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:

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:

rs1556890815

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:

rs387906702

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:

rs587784403

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:

rs587784408

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:

rs587784409

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:

rs587784416

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:

rs587784418

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:

rs587784420

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:

rs797045993

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

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

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

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:

rs1556890815

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:

rs1556890815

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:

rs387906702

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:

rs387906702

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:

rs587784403

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:

rs587784403

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:

rs587784408

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:

rs587784408

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:

rs587784409

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