DisGeNET - a database of gene-disease associations

SMARCAL1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1, 50485

N. diseases: 109; N. variants: 22

Disease: Schimke immunoosseous dysplasia ×

Variant: rs766291662 ×

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:

rs766291662

Entrez Id:	50485
Gene Symbol:	SMARCAL1

SMARCAL1

CUI:	C0877024
Disease:

Schimke immunoosseous dysplasia

0.700

CausalMutation

CLINVAR

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

11799392

2002