Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		0.600 GeneticVariation disease UNIPROT A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome. 27656288 2016
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		0.600 Biomarker disease GENOMICS_ENGLAND Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype. 25987251 2015
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		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: 1290
Gene Symbol: COL5A2
COL5A2 		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: 1290
Gene Symbol: COL5A2
COL5A2 		0.600 GeneticVariation disease CLINVAR Collagen structure and stability. 19344236 2009
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		0.600 GeneticVariation disease UNIPROT Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. 9425231 1998
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		0.600 GeneticVariation disease UNIPROT A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. 9783710 1998
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		0.600 GeneticVariation disease CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		0.600 GeneticVariation disease CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237 1993
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		0.600 CausalMutation disease CLINVAR
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 GeneticVariation disease CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842 2017
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.100 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 GeneticVariation disease CLINVAR DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 27509835 2016
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 GeneticVariation disease CLINVAR Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. 24668929 2014
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.100 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: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 CausalMutation disease CLINVAR Collagen structure and stability. 19344236 2009
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 GeneticVariation disease CLINVAR Collagen structure and stability. 19344236 2009
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 GeneticVariation disease CLINVAR Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 18996919 2009
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 GeneticVariation disease CLINVAR Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 17078022 2007
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 CausalMutation disease CLINVAR Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 17078022 2007
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 CausalMutation disease CLINVAR Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 16786509 2006
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 GeneticVariation disease CLINVAR Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. 16816023 2006
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 CausalMutation disease CLINVAR Osteogenesis imperfecta: clinical, biochemical and molecular findings. 16879195 2006
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 GeneticVariation disease CLINVAR Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta. 11359465 2001
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 CausalMutation disease CLINVAR The human type I collagen mutation database. 9016532 1997