×
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
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
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
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
Ehlers-Danlos Syndrome, Type IV
1.000
GeneticVariation
BEFREE
A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.
28183226 2017
×
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
Ehlers-Danlos Syndrome, Type IV
1.000
GeneticVariation
BEFREE
Vascular Ehlers-Danlos syndrome (type IV ) is an autosomal dominant disorder caused by heterozygous variants of COL3A1 .
28742248 2017
×
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
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
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
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
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
Ehlers-Danlos Syndrome, Type IV
1.000
GeneticVariation
BEFREE
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
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
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
Ehlers-Danlos Syndrome, Type IV
1.000
GeneticVariation
BEFREE
The novel mutation identified in this study is potentially responsible for Ehlers-Danlos syndrome type IV in this patient, and expands the spectrum of COL3A1 mutations.
25776230 2015
×
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
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
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
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
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
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
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
Ehlers-Danlos Syndrome, Type IV
1.000
GeneticVariation
BEFREE
Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1 .
23688910 2014
×
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
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
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
Ehlers-Danlos Syndrome, Type IV
1.000
GeneticVariation
BEFREE
A new COL3A1 mutation in Ehlers-Danlos syndrome type IV .
23489429 2013
×
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
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
Ehlers-Danlos Syndrome, Type IV
1.000
Biomarker
BEFREE
Loss of Col3a1 , the gene for Ehlers-Danlos syndrome type IV , results in neocortical dyslamination.
22235340 2012