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: rs137852825
rs137852825
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		0.800 GeneticVariation UNIPROT Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing. 27196565 2016
dbSNP: rs137852825
rs137852825
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		0.800 GeneticVariation UNIPROT A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly. 25834781 2015
dbSNP: rs137852825
rs137852825
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		0.800 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449 2012
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: 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: 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: 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: rs137852825
rs137852825
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		0.800 GeneticVariation UNIPROT A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. 9737771 1998
dbSNP: rs137852825
rs137852825
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		0.800 GeneticVariation UNIPROT Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. 9714438 1998
dbSNP: rs137852825
rs137852825
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		0.800 GeneticVariation UNIPROT Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. 7493032 1995
dbSNP: rs137852825
rs137852825
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		T 0.800 CausalMutation CLINVAR