DisGeNET - a database of gene-disease associations

FN1, fibronectin 1, 2335

N. diseases: 724; N. variants: 33

Disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder) ×

Variant: rs137854486 ×

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:

rs137854486

Entrez Id:	2335;112268430
Gene Symbol:	FN1;LOC112268430

FN1;LOC112268430

CUI:	C1866075
Disease:

GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in FN1 cause glomerulopathy with fibronectin deposits.

18268355

2008

dbSNP:

rs137854486

Entrez Id:	2335;112268430
Gene Symbol:	FN1;LOC112268430

FN1;LOC112268430

CUI:	C1866075
Disease:

GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)

0.800

CausalMutation

CLINVAR