Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease BEFREE A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1. 29344653 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 CausalMutation disease CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 Biomarker disease MGD Behavioral signs of pain and functional impairment in a mouse model of osteogenesis imperfecta. 26277094 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 Biomarker disease MGD First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome. 24443344 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 Biomarker disease BEFREE To identify the cause of OI in eight children with severe bone fragility and a clinical diagnosis of OI type IV who had had negative results on COL1A1/COL1A2 Sanger sequencing. 23434763 2013
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease UNIPROT Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients. 17875077 2007
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease UNIPROT Osteogenesis imperfecta: clinical, biochemical and molecular findings. 16879195 2006
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease UNIPROT Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 16786509 2006
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease BEFREE More than 150 different COL1A1 gene mutations have been associated with various forms of OI, and five of these have been associated with DGI and type IV OI. 11286811 2001
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease BEFREE Comparison of phenotypic features with the concordant collagen locus showed that in four pedigrees with OI Sillence type I segregated with COL1A1, while two pedigrees with OI Sillence type I and OI type IV segregated with COL1A2. 11208313 2001
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 Biomarker disease MGD Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice. 10608859 1999
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease UNIPROT Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. 9600458 1998
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease BEFREE Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1. 9007315 1996
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease UNIPROT Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N-proteinase. 7982948 1994
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 Biomarker disease BEFREE A heterozygous de novo G to A point mutation in intron 8 at the +5 position of the splice donor site of the gene for the pro alpha 1(I) chain of type I procollagen, COL1A1, was defined in a patient with type IV osteogenesis imperfecta. 7945197 1994
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease UNIPROT Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology. 8094076 1993
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease UNIPROT A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta. 8339541 1993
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease UNIPROT An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta. 7691343 1993
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease UNIPROT Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta. 1770532 1991
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease UNIPROT A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain. 1988452 1991
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease BEFREE Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. 2745420 1989
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease UNIPROT Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. 2745420 1989
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.970 GeneticVariation disease CLINVAR