Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 Biomarker GENOMICS_ENGLAND Challenges in diagnosis of von Willebrand disease in the presence of combined mutations of different genes. 30690834

2019

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 Biomarker CLINGEN Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model. 29551664

2018

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 Biomarker CLINGEN Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family. 28102592

2017

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 Biomarker GENOMICS_ENGLAND Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. 26888179

2016

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 Biomarker GENOMICS_ENGLAND Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459

2014

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 Biomarker CLINGEN Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report. 23374456

2013

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 Biomarker CLINGEN Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts. 22038052

2012

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 Biomarker CLINGEN A mouse model of EDS IV produced by targeted ablation of Col3a1 has been of limited use as only 10% of homozygous animals survive to adulthood, whereas heterozygous animals do not die from arterial rupture. 21071432

2011

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 Biomarker CLINGEN Collagens--structure, function, and biosynthesis. 14623400

2003

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation UNIPROT Biochemical study in cultured fibroblasts and molecular analysis of the COL3A1 gene led to the diagnosis of EDS-IV. 12786757

2003

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation UNIPROT We stress that DNA analysis of COL3A1 should be performed in all patients when there is a strong suspicion of EDS IV, despite negative findings in a collagen protein analysis. 12694234

2003

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation UNIPROT Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis. 11168790

2001

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 Biomarker CLINGEN Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. 11577371

2001

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation UNIPROT Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1). 10706896

2000

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 Biomarker CLINGEN Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1). 10706896

2000

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation UNIPROT Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays. 10923041

2000

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation UNIPROT A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV. 9452103

1998

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation UNIPROT A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV. 8990011

1997

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation UNIPROT Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. 9036918

1997

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 Biomarker CLINGEN Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. 9050868

1997

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation UNIPROT Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen. 9147870

1996

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation UNIPROT A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV. 8664902

1996

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation UNIPROT Three patients with Ehlers-Danlos syndrome type IV (EDS IV) and biochemical evidence of structural defects in collagen III were investigated for mutations within the collagen III gene (COL3A1). 8884076

1996

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation UNIPROT Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV. 7749417

1995

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 Biomarker GENOMICS_ENGLAND Cerebrovascular complications in Ehlers-Danlos syndrome type IV. 8526472

1995