DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Spondylometaphyseal dysplasia, 'corner fracture' type ×

Variant: rs1553659131 ×

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:

rs1553659131

FN1

CUI:	C0432221
Disease:	Spondylometaphyseal dysplasia, 'corner fracture' type

Spondylometaphyseal dysplasia, 'corner fracture' type

0.800

GeneticVariation

CLINVAR

"Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""."

29100092

2017

dbSNP:

rs1553659131

FN1

CUI:	C0432221
Disease:	Spondylometaphyseal dysplasia, 'corner fracture' type

Spondylometaphyseal dysplasia, 'corner fracture' type

0.800

GeneticVariation

UNIPROT

"Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""."

29100092

2017

dbSNP:

rs1553659131

FN1

CUI:	C0432221
Disease:	Spondylometaphyseal dysplasia, 'corner fracture' type

Spondylometaphyseal dysplasia, 'corner fracture' type

0.800

CausalMutation

CLINVAR