DisGeNET - a database of gene-disease associations

rs1553667072, FN1

N. diseases: 3

Disease: Spondylometaphyseal dysplasia, 'corner fracture' type ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Spondylometaphyseal dysplasia, 'corner fracture' type

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

0.800

CausalMutation

CLINVAR

Spondylometaphyseal dysplasia, 'corner fracture' type

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

0.800

GeneticVariation

CLINVAR

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

29100092

2017

Spondylometaphyseal dysplasia, 'corner fracture' type

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

0.800

GeneticVariation

UNIPROT

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

29100092

2017