Gene: COL3A1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes. 27306637 2016
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Familial occurrence and heritable connective tissue disorders in cervical artery dissection. 25355833 2014
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease CLINVAR Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome. 24399159 2014
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease CLINVAR Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome. 24399159 2014
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease CLINVAR Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study. 22492385 2012
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease CLINVAR Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. 22019127 2011
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease CLINVAR Inferring the functional effects of mutation through clusters of mutations in homologous proteins. 20052764 2010
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease CLINVAR Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome. 20518783 2010
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Collagen structure and stability. 19344236 2009
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease CLINVAR Collagen structure and stability. 19344236 2009
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease CLINVAR MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV. 18043893 2008
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease CLINVAR MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV. 18043893 2008
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease CLINVAR Vascular type of Ehlers-Danlos syndrome in a patient with ruptured aneurysm of the splenic artery. 17122455 2006