DisGeNET - a database of gene-disease associations

RFWD3, ring finger and WD repeat domain 3, 55159

N. diseases: 119; N. variants: 5

Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W ×

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:

rs1555524842

Entrez Id:	55159
Gene Symbol:	RFWD3

RFWD3

CUI:	C4521564
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP W

0.800

GeneticVariation

UNIPROT

RPA-Mediated Recruitment of the E3 Ligase RFWD3 Is Vital for Interstrand Crosslink Repair and Human Health.

28575657

2017

dbSNP:

rs1555524842

Entrez Id:	55159
Gene Symbol:	RFWD3

RFWD3

CUI:	C4521564
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP W

0.800

GeneticVariation

UNIPROT

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.

28691929

2017

dbSNP:

rs1555524842

Entrez Id:	55159
Gene Symbol:	RFWD3

RFWD3

CUI:	C4521564
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP W

0.800

CausalMutation

CLINVAR

dbSNP:

rs1205970095

Entrez Id:	55159
Gene Symbol:	RFWD3

RFWD3

CUI:	C4521564
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP W

AGG

0.700

CausalMutation

CLINVAR