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: rs201988564
rs201988564
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0342471
Disease:
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.010 GeneticVariation BEFREE A missense P222T mutation was seriously detrimental, causing the classic phenotype of 3beta-HSD deficiency. 12050213 2002
dbSNP: rs1057519321
rs1057519321
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C4025596
Disease:
Abnormality of connective tissue 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs154001
rs154001
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0242383
Disease:
Age related macular degeneration 		0.010 GeneticVariation BEFREE We detect suggestive association of a common FBN2 non-synonymous variant, rs154001 (p.Val965Ile) with AMD in 10 337 cases and 11 174 controls (OR = 1.10; P-value = 3.79 × 10(-5)). 24899048 2014
dbSNP: rs1554122802
rs1554122802
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0003706
Disease:
Arachnodactyly 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519321
rs1057519321
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0003886
Disease:
Arthrogryposis 		0.010 GeneticVariation BEFREE We report a 29 week fetus with arthrogryposis multiplex congenita, multiple joint dislocations, scoliosis and dysmorphism who was detected to be double heterozygote for putatively pathogenic FBN1 (NM_000138.4:c.6004C > T; p.Pro2002Ser) and FBN2 (NM_001999.3:c.2945G > T; p.Cys982Phe) variants on exome sequencing. 29501612 2018
dbSNP: rs154001
rs154001
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs154001
rs154001
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs35079125
rs35079125
Entrez Id: 2201;28965
Gene Symbol: FBN2;SLC27A6
FBN2;SLC27A6
CUI: C0005938
Disease:
Bone Density 		G 0.700 GeneticVariation GWASCAT Joint Association Analysis Identified 18 New Loci for Bone Mineral Density. 30690781 2019
dbSNP: rs1554122802
rs1554122802
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0240635
Disease:
Byzanthine arch palate 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554122802
rs1554122802
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C4021774
Disease:
Camptodactyly of toe 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs17677603
rs17677603
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0007222
Disease:
Cardiovascular Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs730882230
rs730882230
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0917798
Disease:
Cerebral Ischemia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519321
rs1057519321
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0000768
Disease:
Congenital Abnormality 		0.010 GeneticVariation BEFREE We report a 29 week fetus with arthrogryposis multiplex congenita, multiple joint dislocations, scoliosis and dysmorphism who was detected to be double heterozygote for putatively pathogenic FBN1 (NM_000138.4:c.6004C > T; p.Pro2002Ser) and FBN2 (NM_001999.3:c.2945G > T; p.Cys982Phe) variants on exome sequencing. 29501612 2018
dbSNP: rs1206843725
rs1206843725
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: 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 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: rs1206843725
rs1206843725
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: rs1206843725
rs1206843725
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		A 0.800 GeneticVariation CLINVAR The solution structure of human epidermal growth factor. 3495735 1987
dbSNP: rs1206843725
rs1206843725
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1206843725
rs1206843725
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: rs1206843725
rs1206843725
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: 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 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: 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: 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