×
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
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
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
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
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
Ehlers-Danlos Syndrome, Type IV
1.000
GeneticVariation
CLINVAR
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.
7695699 1994
×
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
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
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
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
Ehlers-Danlos Syndrome, Type IV
1.000
CausalMutation
CLINVAR
Collagen structure and stability.
19344236 2009
×
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
CausalMutation
CLINVAR
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.
8218237 1993
×
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
Ehlers-Danlos Syndrome, Type IV
1.000
CausalMutation
CLINVAR
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.
15365990 2004
×
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
Ehlers-Danlos Syndrome, Type IV
1.000
GeneticVariation
CLINVAR
A single base mutation in the gene for type III collagen (COL3A1 ) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV . An unaffected family member is mosaic for the mutation.
1352273 1992
×
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
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
Ehlers-Danlos Syndrome, Type IV
1.000
GeneticVariation
CLINVAR
Collagen structure and stability.
19344236 2009
×
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
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
×
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
Ehlers-Danlos Syndrome, Type IV
1.000
GeneticVariation
CLINVAR
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.
8218237 1993
×
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
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
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.
18043893 2008
×
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
Ehlers-Danlos Syndrome, Type IV
1.000
CausalMutation
CLINVAR
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
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
Ehlers-Danlos Syndrome, Type IV
1.000
GeneticVariation
CLINVAR
Ehlers-Danlos syndrome type IV , the vascular type, results from mutations in the gene for type III procollagen (COL3A1 ).10706896 2000