FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852825
rs137852825
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. 20799338 2010
dbSNP: rs137852826
rs137852826
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. 20799338 2010
dbSNP: rs137852827
rs137852827
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. 20799338 2010
dbSNP: rs137852828
rs137852828
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. 20799338 2010
dbSNP: rs28931602
rs28931602
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. 20799338 2010
dbSNP: rs794727560
rs794727560
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. 20799338 2010
dbSNP: rs1206843725
rs1206843725
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
A 0.800 GeneticVariation CLINVAR The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. 18767143 2009
dbSNP: rs1206843725
rs1206843725
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. 19006240 2009
dbSNP: rs137852825
rs137852825
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. 19006240 2009
dbSNP: rs137852826
rs137852826
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. 19006240 2009
dbSNP: rs137852827
rs137852827
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. 19006240 2009
dbSNP: rs137852828
rs137852828
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. 19006240 2009
dbSNP: rs28931602
rs28931602
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. 19006240 2009
dbSNP: rs794727560
rs794727560
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. 19006240 2009
dbSNP: rs1206843725
rs1206843725
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
A 0.800 GeneticVariation CLINVAR Fibrillin-1 misfolding and disease. 16677079 2006
dbSNP: rs1206843725
rs1206843725
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. 11754102 2002
dbSNP: rs137852825
rs137852825
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. 11754102 2002
dbSNP: rs137852826
rs137852826
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. 11754102 2002
dbSNP: rs137852827
rs137852827
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. 11754102 2002
dbSNP: rs137852828
rs137852828
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. 11754102 2002
dbSNP: rs28931602
rs28931602
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. 11754102 2002
dbSNP: rs794727560
rs794727560
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. 11754102 2002
dbSNP: rs1206843725
rs1206843725
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. 10797416 2000
dbSNP: rs137852825
rs137852825
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. 10797416 2000
dbSNP: rs137852826
rs137852826
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.800 GeneticVariation UNIPROT Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. 10797416 2000