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 GeneticVariation CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029

2019

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240

2017

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 CausalMutation CLINVAR Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes. 27306637

2016

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994

2015

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 CausalMutation CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994

2015

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 CausalMutation CLINVAR Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome. 26497932

2015

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation CLINVAR 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 CausalMutation CLINVAR Familial occurrence and heritable connective tissue disorders in cervical artery dissection. 25355833

2014

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 CausalMutation CLINVAR Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome. 24399159

2014

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation CLINVAR Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome. 24399159

2014

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 CausalMutation CLINVAR 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 GeneticVariation CLINVAR Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study. 22492385

2012

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 CausalMutation CLINVAR 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 GeneticVariation CLINVAR 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 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 CausalMutation CLINVAR Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. 22019127

2011

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation CLINVAR Inferring the functional effects of mutation through clusters of mutations in homologous proteins. 20052764

2010

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 CausalMutation CLINVAR Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome. 20518783

2010

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 CausalMutation CLINVAR An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management. 19248182

2009

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation CLINVAR Collagen structure and stability. 19344236

2009

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation CLINVAR MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV. 18043893

2008

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 CausalMutation CLINVAR MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV. 18043893

2008

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 CausalMutation CLINVAR Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV. 17728513

2007

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
1.000 GeneticVariation CLINVAR Vascular type of Ehlers-Danlos syndrome in a patient with ruptured aneurysm of the splenic artery. 17122455

2006