COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE To increase the precision of the diagnosis of osteogenesis imperfecta (OI), we used HRM to explore COL1A1/COL1A2 mutations in 87 Chinese OI patients and to perform population-based studies of the relationships between their genotypes and phenotypes. 31414283 2020
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE In our patient, compound heterozygosity with PLOD2 mutations is associated with a clinical phenotype distinctive from classic BRKS2 indicating that when COL1A1 and COL1A2 mutation testing is negative for OI without congenital contractures or pterygia, atypical BRKS should be considered. 31472299 2020
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE The 2017 classification of Ehlers-Danlos syndromes (EDS) identifies three types associated with causative variants in COL1A1/COL1A2 and distinct from osteogenesis imperfecta (OI). 31794058 2020
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE Both inherited and de novo OI pathogenic variants occurred more often in the COL1A1 gene than in the COL1A2. 30675999 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 Biomarker disease BEFREE Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that most often arises from type I collagen-COL1A1 and COL1A2-gene defects leading to skeletal fragility, short stature, blue-gray sclera, and muscle weakness. 30908713 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE Most cases of osteogenesis imperfecta (OI) are caused by mutations in COL1A1 or COL1A2, which encode α chains of type I collagen. 31363794 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes. 30886339 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE The large majority of individuals with an OI phenotype have disease-causing dominant variants in COL1A1 or COL1A2, the genes coding for collagen type I. Interestingly, large sequencing databases indicate that there are about 10 times more carriers of COL1A1/COL1A2 variants that should lead to OI than there are individuals with a diagnosis of OI. 31039433 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE Osteogenesis imperfecta (OI) is a group of heritable fragile bone diseases, and the majority are caused by pathogenic variants in the COL1A1 and COL1A2 genes. 30913006 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE The absence of bone fragility in our patients indicates that cardiac valvular EDS is also separated from patients with autosomal recessive osteogenesis imperfecta and variants in COL1A2, as well as from individuals with autosomal dominant osteogenesis imperfecta and severe cardiac valvular disease. 30821104 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. 28916840 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 Biomarker disease BEFREE Sequence analysis of COL1A1/COL1A2 and other OI-related genes was compared to the Peer Assessment Rating (PAR), an index reflecting the severity of malocclusion. 29388328 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III. 29543922 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE In this study, we report the clinical diagnosis of OI in a dog and the use of targeted next-generation sequencing to identify a candidate autosomal dominant mutation in the COL1A2 gene. 29036614 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE In summary, we report on autosomal recessive OI caused by a homozygous glycine-to-serine substitution in COL1A2, leading to severe skeletal fragility. 29572562 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE Osteogenesis imperfecta (OI) is a heritable connective tissue disorder primarily due to mutations in the type I collagen genes (COL1A1 and COL1A2), leading to compromised biomechanical integrity in type I collagen-containing tissues such as bone. 29813187 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE 29 patients showed mutations in COL1A1 or COL1A2 and were classified as OI. 29946973 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE A number of recent reports have suggested that mutations affecting the carboxyl-terminal propeptide cleavage site in the products of either COL1A1 or COL1A2 give rise to a form of OI characterized by unusually dense bones. 29669177 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation. 29636545 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 Biomarker disease BEFREE Mutations in the type I collagen genes (COL1A1 and COL1A2) mainly cause osteogenesis imperfecta (OI). 28261977 2017
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE [Corrigendum] Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta. 28035422 2017
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure. 28820180 2017
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, mainly caused by mutations in the collagen type I genes (COL1A1 and COL1A2). 27510842 2017
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE Mice with the Amish OI mutation (Col1a2 G610C mice) and control wild type littermates (WT) were treated from week 5 to week 9 of life with (1) saline (control), (2) zoledronic acid given 0.025mg/kg s.c. weekly (ZA), (3) Scl-Ab given 50mg/kg IV weekly (Scl-Ab), or (4) a combination of both (Scl-Ab/ZA). 28461254 2017
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 GeneticVariation disease BEFREE Mutations in the two genes coding for collagen type I, COL1A1 and COL1A2, are the most common cause of osteogenesis imperfecta. 28863000 2017