rs1553667072, FN1

N. diseases: 3
Source: ALL
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 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
Spondylometaphyseal dysplasia, 'corner fracture' type
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
0.800 CausalMutation CLINVAR
Strudwick syndrome
CUI: C0700635
Disease: Strudwick syndrome
0.700 GeneticVariation CLINVAR
Lattice corneal dystrophy Type I
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
0.010 GeneticVariation BEFREE The R124C mutation of the TGFBI gene gives rise to lattice corneal dystrophy type I, which is characterized by irregularity, turbulence, and opacity of the corneal epithelium. 22080335 2012