COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Disease: Lobstein Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease BEFREE COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I. 30829463 2019
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. 29595812 2018
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations. 26371943 2018
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842 2017
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. 28810924 2017
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. 28378289 2017
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842 2017
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. 28498836 2017
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease CLINVAR Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta. 27748872 2016
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 Biomarker disease BEFREE COL1A1 and COL1A2 were analyzed in 79 children with OI (type I n=33, type III n=25 and type IV n=21) treated with Pamidronate. 26957348 2016
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. 27519266 2016
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta. 27748872 2016
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease CLINVAR DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 27509835 2016
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta. 26471105 2016
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Mutations in patients with osteogenesis imperfecta from consanguineous Indian families. 25450603 2015
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta. 26627451 2015
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Genetics of Osteoporosis in Children. 26138843 2015
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380 2015
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 26177859 2015
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. 26432670 2015
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR A rare case of osteogenesis imperfecta combined with complete tooth loss. 23934635 2014
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience. 24342908 2014
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease CLINVAR Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. 24668929 2014
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		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