Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2335
Gene Symbol: FN1
FN1 		0.700 Biomarker disease GENOMICS_ENGLAND "Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with ""corner fractures""." 30599297 2019
Entrez Id: 2335
Gene Symbol: FN1
FN1 		0.700 GeneticVariation disease UNIPROT "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." 29100092 2017
Entrez Id: 2335
Gene Symbol: FN1
FN1 		0.700 GeneticVariation disease CLINVAR "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." 29100092 2017
Entrez Id: 2335
Gene Symbol: FN1
FN1 		0.700 GermlineCausalMutation disease ORPHANET "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." 29100092 2017
Entrez Id: 2335
Gene Symbol: FN1
FN1 		0.700 Biomarker disease GENOMICS_ENGLAND "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." 29100092 2017
Entrez Id: 2335
Gene Symbol: FN1
FN1 		0.700 CausalMutation disease CLINVAR
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.300 GeneticVariation disease ORPHANET COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. 17163530 2007