Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.450 Biomarker disease BEFREE FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection. 27437668 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.450 GeneticVariation disease BEFREE Today we know that mutations in fibrillin-1 cause the Marfan syndrome as well as Weill-Marchesani syndrome (and other acromelic dysplasias) and result in opposite clinical phenotypes: tall or short stature; arachnodactyly or brachydactyly; joint hypermobility or stiff joints; hypomuscularity or hypermuscularity. 25957947 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.450 Biomarker disease CTD_human Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 22772368 2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.450 GeneticVariation disease BEFREE Mutations in FBN1 are mainly responsible for the Marfan syndrome (MFS), recognized by its pleiotropic clinical features including tall stature and arachnodactyly, aortic dilatation and dissection, and ectopia lentis. 22242013 2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.450 GeneticVariation disease BEFREE After exome sequencing in GD and AD cases, we selected fibrillin 1 (FBN1) as a candidate gene, even though mutations in this gene have been described in Marfan syndrome, which is characterized by tall stature and arachnodactyly. 21683322 2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.450 GeneticVariation disease BEFREE We have identified a novel missense mutation in exon 28 of the FBN1 gene (R1170H) which is responsible for an atypical marfanoid phenotype characterised by dolichostenomelia and arachnodactyly. 7870075 1994
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.450 CausalMutation disease CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.450 Biomarker disease HPO
Entrez Id: 25
Gene Symbol: ABL1
ABL1
0.300 Biomarker disease GENOMICS_ENGLAND Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
0.300 Biomarker disease CTD_human Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement. 17103440 2006
Entrez Id: 4883
Gene Symbol: NPR3
NPR3
0.300 Biomarker disease GENOMICS_ENGLAND Three new allelic mouse mutations that cause skeletal overgrowth involve the natriuretic peptide receptor C gene (Npr3). 10468599 1999
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
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
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.120 GeneticVariation disease BEFREE To date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly. 27339457 2016
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.120 GeneticVariation disease BEFREE Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 19664000 2009
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
0.120 GeneticVariation disease BEFREE Contractural arachnodactyly is due to mutations in FBN2. 8541880 1995
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
0.120 Biomarker disease HPO
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.120 Biomarker disease HPO
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
0.120 GeneticVariation disease CLINVAR
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.100 Biomarker disease HPO
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
0.100 Biomarker disease HPO
Entrez Id: 5184
Gene Symbol: PEPD
PEPD
0.100 Biomarker disease HPO
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
0.100 Biomarker disease HPO
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
0.100 CausalMutation disease CLINVAR
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.100 Biomarker disease HPO
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
0.100 CausalMutation disease CLINVAR