DisGeNET - a database of gene-disease associations

SMARCB1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, 6598

N. diseases: 448; N. variants: 30

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:

rs1057517825

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C3553248
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

0.800

GeneticVariation

CLINVAR

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.

26364901

2015

dbSNP:

rs1057517825

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C3553248
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

0.800

GeneticVariation

CLINVAR

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

23906836

2013

dbSNP:

rs387906812

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C3553248
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

0.800

GeneticVariation

UNIPROT

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

23906836

2013

dbSNP:

rs398122368

Entrez Id:	6598
Gene Symbol:	SMARCB1

SMARCB1

CUI:	C3553248
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

0.800

GeneticVariation

UNIPROT

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

23906836

2013

dbSNP:

rs387906812

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C3553248
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

0.800

GeneticVariation

UNIPROT

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

22726846

2012

dbSNP:

rs387906812

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C3553248
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

0.800

GeneticVariation

UNIPROT

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

22426308

2012

dbSNP:

rs398122368

Entrez Id:	6598
Gene Symbol:	SMARCB1

SMARCB1

CUI:	C3553248
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

0.800

GeneticVariation

UNIPROT

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

22726846

2012

dbSNP:

rs398122368

Entrez Id:	6598
Gene Symbol:	SMARCB1

SMARCB1

CUI:	C3553248
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

0.800

GeneticVariation

UNIPROT

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

22426308

2012

dbSNP:

rs1057517825

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C3553248
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

0.800

GeneticVariation

UNIPROT

dbSNP:

rs387906812

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C3553248
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

0.800

CausalMutation

CLINVAR

dbSNP:

rs398122368

Entrez Id:	6598
Gene Symbol:	SMARCB1

SMARCB1

CUI:	C3553248
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

0.800

CausalMutation

CLINVAR

dbSNP:

rs5760054

Entrez Id:	6598
Gene Symbol:	SMARCB1

SMARCB1

CUI:	C2599768
Disease:

Fractional shortening

0.700

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs1555877286

Entrez Id:	6598
Gene Symbol:	SMARCB1

SMARCB1

CUI:	C1836327
Disease:

RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)

0.700

CausalMutation

CLINVAR

Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency.

26998479

2015

dbSNP:

rs1057517825

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Coffin-Siris syndrome is a SWI/SNF complex disorder.

23815551

2014

dbSNP:

rs1057517825

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Coffin-Siris syndrome is a SWI/SNF complex disorder.

23815551

2014

dbSNP:

rs1057517825

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

25168959

2014

dbSNP:

rs1057517825

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

25168959

2014

dbSNP:

rs1057517825

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Coffin-Siris syndrome is a SWI/SNF complex disorder.

23815551

2014

dbSNP:

rs1057517825

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

25168959

2014

dbSNP:

rs1555877286

Entrez Id:	6598
Gene Symbol:	SMARCB1

SMARCB1

CUI:	C1836327
Disease:

RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)

0.700

CausalMutation

CLINVAR

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.

24933152

2014

dbSNP:

rs875989800

Entrez Id:	6598
Gene Symbol:	SMARCB1

SMARCB1

CUI:	C3553248
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

25168959

2014

dbSNP:

rs875989800

Entrez Id:	6598
Gene Symbol:	SMARCB1

SMARCB1

CUI:	C1836327
Disease:

RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)

0.700

GeneticVariation

CLINVAR

Coffin-Siris syndrome is a SWI/SNF complex disorder.

23815551

2014

dbSNP:

rs1057517825

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

23906836

2013

dbSNP:

rs1057517825

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

23929686

2013

dbSNP:

rs1057517825

Entrez Id:	6598;91319
Gene Symbol:	SMARCB1;DERL3

SMARCB1;DERL3

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

23906836

2013