×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
Biomarker
disease
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
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
Biomarker
disease
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
1.000
GeneticVariation
disease
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
1.000
GeneticVariation
disease
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
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
Biomarker
disease
CLINGEN
Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.
28102592
2017
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
Biomarker
disease
GENOMICS_ENGLAND
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.
26888179
2016
×
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
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
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
GeneticVariation
disease
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
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
Biomarker
disease
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
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
GeneticVariation
disease
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
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
Biomarker
disease
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
1.000
GeneticVariation
disease
BEFREE
A new COL3A1 mutation in Ehlers-Danlos syndrome type IV .
23489429
2013
×
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
Biomarker
disease
BEFREE
Loss of Col3a1 , the gene for Ehlers-Danlos syndrome type IV , results in neocortical dyslamination.
22235340
2012