FN1, fibronectin 1, 2335

N. diseases: 724; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064795155
rs1064795155
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0700635
Disease:
Strudwick syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1181638652
rs1181638652
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0700635
Disease:
Strudwick syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1181638652
rs1181638652
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0432221
Disease:
Spondylometaphyseal dysplasia, 'corner fracture' type 		C 0.700 GeneticVariation CLINVAR "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." 29100092 2017
dbSNP: rs1224741906
rs1224741906
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0268398
Disease:
Familial lichen amyloidosis 		0.010 GeneticVariation BEFREE The mutation p.P694L was associated with the same haplotype in five of six families and also detected in two sporadic cases of PCA. 19690585 2010
dbSNP: rs1250247
rs1250247
Entrez Id: 2335;105373868
Gene Symbol: FN1;LOC105373868
FN1;LOC105373868
CUI: C0871470
Disease:
Systolic Pressure 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs1250248
rs1250248
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C1445957
Disease:
Serum total cholesterol measurement 		A 0.700 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
dbSNP: rs1250248
rs1250248
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1250248
rs1250248
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0014175
Disease:
Endometriosis 		0.030 GeneticVariation BEFREE Our results demonstrated a genetic association between the rs1250248 (FN1) SNP and endometriosis at both the genotypic and allelic level. 31115525 2019
dbSNP: rs1250248
rs1250248
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0014175
Disease:
Endometriosis 		0.030 GeneticVariation BEFREE A non-significant trend towards the association of rs1250248 with moderate/severe endometriosis was observed (odds ratio 1.18, 95% confidence interval 0.97-1.44). 23315067 2013
dbSNP: rs1250248
rs1250248
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0014175
Disease:
Endometriosis 		0.030 GeneticVariation BEFREE The meta-analysis showed that rs7521902 was associated with endometriosis at a genome-wide significance (p(meta)=2.23×10(-9)) while for rs1250248, a genome-wide significant p(meta) value of 3.89×10(-9) was detected only in association with severe forms. 23142796 2013
dbSNP: rs1250248
rs1250248
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0029928
Disease:
Ovarian Diseases 		0.010 GeneticVariation BEFREE An epistatic interaction between rs7521902 and rs1250248 (OR 1.56, p=1.19×10(-2)) was found especially in presence of ovarian disease (OR=2.15, p=3.12×10(-4)). 23142796 2013
dbSNP: rs1250258
rs1250258
Entrez Id: 2335;105373868
Gene Symbol: FN1;LOC105373868
FN1;LOC105373868
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1250258
rs1250258
Entrez Id: 2335;105373868
Gene Symbol: FN1;LOC105373868
FN1;LOC105373868
CUI: C0523633
Disease:
Fibronectin measurement 		C 0.700 GeneticVariation GWASCAT Connecting genetic risk to disease end points through the human blood plasma proteome. 28240269 2017
dbSNP: rs1250258
rs1250258
Entrez Id: 2335;105373868
Gene Symbol: FN1;LOC105373868
FN1;LOC105373868
CUI: C0014175
Disease:
Endometriosis 		0.700 GeneticVariation GWASCAT Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis. 28333195 2017
dbSNP: rs1250259
rs1250259
Entrez Id: 2335;105373868
Gene Symbol: FN1;LOC105373868
FN1;LOC105373868
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs1250259
rs1250259
Entrez Id: 2335;105373868
Gene Symbol: FN1;LOC105373868
FN1;LOC105373868
CUI: C1956346
Disease:
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs1250259
rs1250259
Entrez Id: 2335;105373868
Gene Symbol: FN1;LOC105373868
FN1;LOC105373868
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs1250259
rs1250259
Entrez Id: 2335;105373868
Gene Symbol: FN1;LOC105373868
FN1;LOC105373868
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs1250259
rs1250259
Entrez Id: 2335;105373868
Gene Symbol: FN1;LOC105373868
FN1;LOC105373868
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1250259
rs1250259
Entrez Id: 2335;105373868
Gene Symbol: FN1;LOC105373868
FN1;LOC105373868
CUI: C0205682
Disease:
Waist-Hip Ratio 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs1277989297
rs1277989297
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C1533041
Disease:
Primary congenital glaucoma 		0.010 GeneticVariation BEFREE Targeted COL1A1 screening of 26 additional patients detected three further heterozygous variants (p.Arg253*, p.Gly767Ser and p.Gly154Val) in three distinct subjects: two of them diagnosed with early onset glaucoma and mild form of osteogenesis imperfecta (OI), one patient with a diagnosis of PCG at age 4 years. 27484908 2016
dbSNP: rs1277989297
rs1277989297
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0029434
Disease:
Osteogenesis Imperfecta 		0.010 GeneticVariation BEFREE Targeted COL1A1 screening of 26 additional patients detected three further heterozygous variants (p.Arg253*, p.Gly767Ser and p.Gly154Val) in three distinct subjects: two of them diagnosed with early onset glaucoma and mild form of osteogenesis imperfecta (OI), one patient with a diagnosis of PCG at age 4 years. 27484908 2016
dbSNP: rs1373375768
rs1373375768
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.700 GeneticVariation UNIPROT
dbSNP: rs137854486
rs137854486
Entrez Id: 2335;112268430
Gene Symbol: FN1;LOC112268430
FN1;LOC112268430
CUI: C1866075
Disease:
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs137854486
rs137854486
Entrez Id: 2335;112268430
Gene Symbol: FN1;LOC112268430
FN1;LOC112268430
CUI: C1866075
Disease:
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in FN1 cause glomerulopathy with fibronectin deposits. 18268355 2008