FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
Disease: Arachnodactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.120 Biomarker disease BEFREE CCA is characterized by arachnodactyly, dolichostenomelia, pectus deformities, kyphoscoliosis, congenital contractures and a crumpled appearance of the helix of the ear. 27196565 2016
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.120 GeneticVariation disease BEFREE Contractural arachnodactyly is due to mutations in FBN2. 8541880 1995
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.120 Biomarker disease HPO
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.120 GeneticVariation disease CLINVAR