Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Mutations in patients with osteogenesis imperfecta from consanguineous Indian families. 25450603 2015
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta. 26627451 2015
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Genetics of Osteoporosis in Children. 26138843 2015
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380 2015
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 26177859 2015
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. 26432670 2015
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR A rare case of osteogenesis imperfecta combined with complete tooth loss. 23934635 2014
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience. 24342908 2014
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 GeneticVariation disease CLINVAR Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. 24668929 2014
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 GeneticVariation disease CLINVAR Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. 23692737 2013
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. 24501682 2013
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 GeneticVariation disease BEFREE A second family with type I osteogenesis imperfecta carried a heterozygous nonsense mutation c.4060C > T (p.Gln1354X) within the last exon of COL1A2. 24140640 2013
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta. 22753364 2012
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. 21667357 2012
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms. 22589248 2012
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype. 22206639 2011
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 GeneticVariation disease CLINVAR Collagen structure and stability. 19344236 2009
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Collagen structure and stability. 19344236 2009
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 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 		0.890 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 		0.890 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 		0.890 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 		0.890 GeneticVariation disease UNIPROT Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. 16705691 2006