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 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 		1.000 CausalMutation disease CLINVAR Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV. 2349939 1990
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237 1993
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237 1993
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		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 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 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 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 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 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 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 Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome. 24399159 2014