Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.030 GeneticVariation 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
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.030 GeneticVariation BEFREE Aortic dilatation/dissection (AD) can occur spontaneously or in association with genetic syndromes, such as Marfan syndrome (MFS; caused by FBN1 mutations), MFS type 2 and Loeys-Dietz syndrome (associated with TGFBR1/TGFBR2 mutations), and Ehlers-Danlos syndrome (EDS) vascular type (caused by COL3A1 mutations). 20648054

2010
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.030 GeneticVariation BEFREE Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family. 2883320

1987