FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
Disease: Congenital contractural arachnodactyly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307066
rs1085307066
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		A 0.700 GeneticVariation CLINVAR Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. 11754102 2002
dbSNP: rs1085307066
rs1085307066
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		A 0.700 GeneticVariation CLINVAR Regulation of limb patterning by extracellular microfibrils. 11470817 2001
dbSNP: rs1085307066
rs1085307066
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		A 0.700 GeneticVariation CLINVAR Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. 11285249 2001