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 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 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 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 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 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 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 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 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 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 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 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 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 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 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: 1281
Gene Symbol: COL3A1
COL3A1
0.400 GeneticVariation disease BEFREE We describe here a mutation in the intron 14 of the COL3A1 gene leading to EDS Type IV (EDS IV) associated with venous manifestations only. 23688910 2014
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.400 Biomarker disease BEFREE Ehlers-Danlos syndrome (EDS) type VII results from defects in the conversion of type I procollagen to collagen as a consequence of mutations in the substrate that alter the protease cleavage site (EDS type VIIA and VIIB) or in the protease itself (EDS type VIIC). 9295084 1997
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.400 Biomarker disease BEFREE Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. 1642226 1992
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.400 GeneticVariation disease BEFREE We studied the structure of the COL3A1 gene of an individual with EDS type IV and that of her phenotypically normal parents. 8317500 1993
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.400 GeneticVariation disease BEFREE The abnormally processed collagen α2(I) and the skipping of the exon 6 in COL1A2 gene are typically detected in EDS type VII B. 23158907 2012
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.400 GeneticVariation disease BEFREE We identified three unrelated individuals with a rare recessively inherited form of EDS (characterized by joint hypermobility, skin hyperextensibility, and cardiac valvular defects); in two of them, COL1A2 messenger RNA (mRNA) instability results from compound heterozygosity for splice site mutations in the COL1A2 gene, and, in the third, it results from homozygosity for a nonsense codon. 15077201 2004
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.400 GeneticVariation disease BEFREE A large kindred with EDS type IV was studied clinically, and the biochemical defects and underlying mutation in the COL3A1 gene that encodes the chains of type III procollagen were identified. 10051163 1999
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.400 GeneticVariation disease BEFREE Mutations in the COL1A1 and COL1A2 genes, encoding the proalpha1 and 2 chains of type I collagen, cause osteogenesis imperfecta (OI) or Ehlers-Danlos syndrome (EDS) arthrochalasis type. 17211858 2007
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.400 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: 1281
Gene Symbol: COL3A1
COL3A1
0.400 GeneticVariation disease BEFREE Although vascular Ehlers-Danlos syndrome appears to be genetically homogeneous, allelic heterogeneity is marked, and the natural history varies with gender and type of mutation in COL3A1. 24922459 2014