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 		0.600 Biomarker disease GENOMICS_ENGLAND Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. 29543232 2018
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.600 CausalMutation disease CLINVAR Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 23587214 2013
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.600 GeneticVariation disease CLINVAR Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 23587214 2013
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.600 Biomarker disease GENOMICS_ENGLAND Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 23587214 2013
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.600 GeneticVariation disease CLINVAR Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. 22696272 2012
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.600 CausalMutation disease CLINVAR Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. 22696272 2012
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.600 GeneticVariation disease UNIPROT COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. 18972565 2009
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.600 GeneticVariation disease CLINVAR Collagen structure and stability. 19344236 2009
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.600 GeneticVariation disease UNIPROT The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. 15580559 2005
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.600 GeneticVariation disease UNIPROT Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. 11992482 2002
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.600 GeneticVariation disease UNIPROT Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? 10602121 2000
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.600 GeneticVariation disease UNIPROT Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. 9042913 1997
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.600 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 		0.600 GeneticVariation disease CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.600 GeneticVariation disease CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237 1993
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.600 Biomarker disease GENOMICS_ENGLAND