Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE None of them could be classified as affected by OI or by any of the three recognized EDS variants associated with COL1A1/COL1A2. 31794058 2020
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE This raises the question of the association of COL1A1 p.(Arg312Cys) with arterial complications and the need for a gene panel including not only the usual genes tested in search of classical or vascular EDS but also COL1A1. 31531849 2020
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE We identified a known <i>COL1A1</i> (encoding collagen type I α 1 chain) mutation (c.2010delT, p.Gly671Alafs*95) in all three patients (the proband, her brother, and her mother) in this family, but also a novel heterozygous <i>COL5A1</i> (encoding collagen type V α 1 chain) mutation (c.5335A>G, p.N1779D) in the region encoding the C-terminal propeptide domain in the proband and her mother, who both had the compound phenotype of OI and EDS. 31239369 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE They have a more severe form of type I OI with features of EDS that represents their compound heterozygosity for two deleterious COL1A1 mutations. 28436160 2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome. 28261977 2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review. 28102596 2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE We also describe the first recessive EDS-like condition to be caused by a recessive COL1A1 variant. 27023906 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. 26799614 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 Biomarker disease GENOMICS_ENGLAND Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1. 25845371 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE The diagnosis of EDS type VII was confirmed by biochemical studies or mutation analysis showing characteristic mutations in COL1A1 and COL1A2. 21801164 2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE In the second case, a missense mutation in COL1A1 (substitution of arginine by cysteine) results in a type I EDS phenotype with clinically normal-appearing dentition. 17118335 2007
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE Heterozygous mutations in the COL1A1 or COL1A2 gene encoding the alpha1 and alpha2 chain of type I collagen generally cause either osteogenesis imperfecta or the arthrochalasis form of Ehlers-Danlos syndrome (EDS). 16816023 2006
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 Biomarker disease LHGDN Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix. 16407265 2006
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease LHGDN Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. 15728585 2005
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 Biomarker disease LHGDN Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation. 16272059 2005
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 Biomarker disease BEFREE Mutations in the genes coding for collagen alpha1(V) chain (COL5A1), collagen alpha2(V) chain (COL5A2), tenascin-X (TNX), and collagen alpha1(I) chain (COL1A1) have been characterized in patients with classical EDS, thus confirming the suspected genetic heterogeneity. 11992482 2002
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE Thus, in contrast to mutations in genes that encode the dominant protein of a tissue (e.g., COL1A1 and COL2A1), in which "null" mutations result in phenotypes milder than those caused by mutations that alter protein sequence, the phenotypes produced by these mutations in COL3A1 overlap with those of the vascular form of EDS. 11577371 2001
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE The proband is the fourth reported proband with Ehlers-Danlos syndrome VII with a single-base mutation that causes skipping of exon 6 in the splicing of RNA from either the COL1A1 gene or COL1A2 gene. 1990839 1991
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE We have used a number of restriction site dimorphisms, tightly linked to the structural genes of type I collagen (COL1A1 COL1A2) and type III collagen (COL3A1), to investigate the segregation of corresponding alleles in three pedigrees in which type II EDS was clearly inherited as a dominant trait. 2049575 1991
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 Biomarker disease MGD
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.400 GeneticVariation disease BEFREE The primary suspicion of vascular EDS with the unsatisfactory identification of a COL3A1 benign variant was secondarily readjusted with the identification of COL1A1 p.(Arg312Cys) variant. 31531849 2020
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.400 GeneticVariation disease BEFREE None of them could be classified as affected by OI or by any of the three recognized EDS variants associated with COL1A1/COL1A2. 31794058 2020
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.400 GeneticVariation disease BEFREE We describe the phenotype of the largest series of vEDS patients with glutamic acid to lysine substitutions (Glu>Lys) in COL3A1, which were all previously considered to be variants of unknown significance. 30837697 2019
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.400 Biomarker disease BEFREE A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome. 31394236 2019
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.400 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