DisGeNET - a database of gene-disease associations

Source: ALL

Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 ×

Gene: RAC1 ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5879
Gene Symbol:	RAC1

RAC1

CUI:	C4540321
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48

MENTAL RETARDATION, AUTOSOMAL DOMINANT 48

0.600

GeneticVariation

UNIPROT

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

28886345

2017

Entrez Id:	5879
Gene Symbol:	RAC1

RAC1

CUI:	C4540321
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48

MENTAL RETARDATION, AUTOSOMAL DOMINANT 48

0.600

GermlineCausalMutation

ORPHANET

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

28886345

2017

Entrez Id:	5879
Gene Symbol:	RAC1

RAC1

CUI:	C4540321
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48

MENTAL RETARDATION, AUTOSOMAL DOMINANT 48

0.600

CausalMutation

CLINVAR