Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 GeneticVariation disease BEFREE In this study, we used MSCs from a patient with type III OI who was heterozygous for an IVS 41A+4C mutation in COL1A1. 15815702 2005
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 GeneticVariation disease BEFREE The woman had a daughter who was affected with OI type III and carried an insertion frameshift mutation of c.4308_4309insA in exon 52 of the COL1A1 gene. 23548228 2013
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 Biomarker disease MGD Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms. 22589248 2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 GeneticVariation disease UNIPROT Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. 8669434 1996
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 GeneticVariation disease UNIPROT Osteogenesis imperfecta: clinical, biochemical and molecular findings. 16879195 2006
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 GeneticVariation disease CLINVAR
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease BEFREE We preformed linkage analyses in eight OI type III families using RFLPs associated with the COL1A1 and COL1A2 loci to determine whether mutations in the genes for type I collagen were responsible for this form of OI. 8100856 1993
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. 7881420 1994
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta. 8829649 1996
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. 8444468 1993
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 Biomarker disease MGD Heterozygous oim mice exhibit a mild form of osteogenesis imperfecta. 8968022 1996
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 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 		0.950 Biomarker disease MGD Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta. 8446583 1993
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT Osteogenesis imperfecta: comparison of molecular defects with bone histological changes. 7520724 1994
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease BEFREE Also, a missense mutation in COL1A2 changing Gly→Cys in the central part of the triple helical domain of the collagen type I molecule caused OI type III. 29543922 2018
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding. 8723681 1996
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism. 8800927 1996
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease CLINVAR
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease BEFREE Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. 19208385 2009
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 Biomarker disease MGD Bone mineralization in an osteogenesis imperfecta mouse model studied by small-angle x-ray scattering. 8567960 1996
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease BEFREE A new recurrent point mutation in the COL1A2 gene was found in a patient with type III osteogenesis imperfecta (OI). 11359465 2001
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. 7749416 1995
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease BEFREE Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen. 8728690 1996
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011