FN1, fibronectin 1, 2335

N. diseases: 724; N. variants: 33
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		0.700 GeneticVariation disease UNIPROT "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." 29100092 2017
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		0.700 GeneticVariation disease CLINVAR "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." 29100092 2017
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		0.700 Biomarker disease GENOMICS_ENGLAND "Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with ""corner fractures""." 30599297 2019
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		0.700 Biomarker disease GENOMICS_ENGLAND "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." 29100092 2017
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		0.700 CausalMutation disease CLINVAR
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		0.700 GermlineCausalMutation disease ORPHANET "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." 29100092 2017