Gene: COL5A1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.730 Biomarker disease CTD_human Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. 20635400 2010
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.730 Biomarker disease MGD Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. 16492673 2006
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.730 Biomarker disease MGD Type V collagen controls the initiation of collagen fibril assembly. 15383546 2004
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.730 GeneticVariation disease BEFREE Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. 12145749 2002
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.730 Biomarker disease GENOMICS_ENGLAND Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. 9042913 1997
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.730 Biomarker disease CTD_human Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. 9042913 1997
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.730 Biomarker disease BEFREE The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II. 8752669 1996
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.730 GeneticVariation disease BEFREE A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). 8923000 1996
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.730 Biomarker disease CTD_human The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II. 8752669 1996