DisGeNET - a database of gene-disease associations

Rhabdoid tumor predisposition syndrome, C2985524

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	6598
Gene Symbol:	SMARCB1

SMARCB1

Q12824

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

Nucleic acid binding

448

0.434

0.846

1.00

0.400

None

1.000

1999

2018

Entrez Id:	6597
Gene Symbol:	SMARCA4

SMARCA4

P51532

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

Epigenetic regulator

347

0.450

0.885

1.00

0.340

None

1.000

2010

2020

Entrez Id:	6594
Gene Symbol:	SMARCA1

SMARCA1

P28370

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1

Enzyme

183

0.504

0.808

1.00

0.010

None

1.000

2014