Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
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
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
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
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
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
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		1.000 Biomarker GENOMICS_ENGLAND Cerebrovascular complications in Ehlers-Danlos syndrome type IV. 8526472

1995
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		1.000 Biomarker GENOMICS_ENGLAND Experiments were carried out to test the hypothesis that familial aortic aneurysms, either thoracic or abdominal, are caused by mutations in the gene for type III procollagen (COL3A1) similar to mutations in the same gene that have been shown to cause rupture of aorta and other disastrous consequences in the rare genetic disorder known as Ehlers-Danlos syndrome type IV. 2243125

1990
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		1.000 Biomarker GENOMICS_ENGLAND Marfan's syndrome and spontaneous pneumothorax. 7369469

1980