Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 Biomarker disease CLINGEN 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 BEFREE Furthermore, stroke is a well-known complication of several heritable connective tissue disorders, including Marfan's syndrome (FBN1 mutations) and Ehlers-Danlos syndrome type IV (COL3A1 mutations), which predispose to cervical artery dissection, the most frequent cause of cerebral ischemia at young age. 22113147 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 Biomarker disease BEFREE COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy. 21637106 2011
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 Biomarker disease MGD A mouse model of EDS IV produced by targeted ablation of Col3a1 has been of limited use as only 10% of homozygous animals survive to adulthood, whereas heterozygous animals do not die from arterial rupture. 21071432 2011
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease BEFREE Ehlers-Danlos syndrome, vascular type (vEDS) (MIM #130050) is an autosomal dominant disorder caused by type III procollagen gene (COL3A1) mutations. 21219851 2011
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 Biomarker disease CLINGEN A mouse model of EDS IV produced by targeted ablation of Col3a1 has been of limited use as only 10% of homozygous animals survive to adulthood, whereas heterozygous animals do not die from arterial rupture. 21071432 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 BEFREE Vascular-type Ehlers-Danlos syndrome (vEDS) is a severe autosomal dominant inherited disorder resulting from mutations within the α1 type III collagen gene (COL3A1). 20518783 2010
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
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 BEFREE Biochemical study in cultured fibroblasts and molecular analysis of the COL3A1 gene led to the diagnosis of EDS-IV. 12786757 2003
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 Biomarker disease BEFREE We stress that DNA analysis of COL3A1 should be performed in all patients when there is a strong suspicion of EDS IV, despite negative findings in a collagen protein analysis. 12694234 2003
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 Biomarker disease CLINGEN Collagens--structure, function, and biosynthesis. 14623400 2003
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease UNIPROT Biochemical study in cultured fibroblasts and molecular analysis of the COL3A1 gene led to the diagnosis of EDS-IV. 12786757 2003