Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Ullrich congenital muscular dystrophy 1
1.000 GeneticVariation disease BEFREE This study not only broadens the allelic spectrum of pathogenic COL6A3 variants in myopathy but also gives an additional support to Ullrich congenital muscular dystrophy and Bethlem myopathy clinical continuum. 29894794 2018
Ullrich congenital muscular dystrophy 1
1.000 Biomarker disease BEFREE Mutations in collagen VI-related genes (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). 28831785 2017
Ullrich congenital muscular dystrophy 1
1.000 Biomarker disease MGD The resulting heterozygous mouse, Col6a3(+/d16), produced comparable amounts of normal Col6a3 mRNA and a mutant transcript with an in-frame deletion of 54 bp of triple-helical coding sequences, thus mimicking the most common molecular defect found in dominant Ullrich congenital muscular dystrophy patients. 24563484 2014
Ullrich congenital muscular dystrophy 1
1.000 GeneticVariation disease BEFREE Mutations in COL6A1, COL6A2 and COL6A3 genes cause Ullrich Congenital Muscular Dystrophy (UCMD), Bethlem Myopathy, and Myosclerosis. 22226732 2012
Ullrich congenital muscular dystrophy 1
1.000 GeneticVariation disease BEFREE Skin abnormalities, including predisposition to keratosis pilaris and abnormal scarring, were described in Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) patients carrying mutations in COL6A1, COL6A2, and COL6A3 genes, whereas COL6A5, previously designated as COL29A1, was linked to atopic dermatitis. 20882040 2011
Ullrich congenital muscular dystrophy 1
1.000 AlteredExpression disease BEFREE Mutations in the collagen VI genes (COL6A1, COL6A2 and COL6A3) result in Ullrich congenital muscular dystrophy (CMD), Bethlem myopathy or phenotypes intermediate between Ullrich CMD and Bethlem myopathy. 19884007 2009
Ullrich congenital muscular dystrophy 1
1.000 CausalMutation disease CLINVAR Natural history of Ullrich congenital muscular dystrophy. 19564581 2009
Ullrich congenital muscular dystrophy 1
1.000 Biomarker disease GENOMICS_ENGLAND Natural history of Ullrich congenital muscular dystrophy. 19564581 2009
Ullrich congenital muscular dystrophy 1
1.000 GermlineCausalMutation disease ORPHANET Here we report 10 unrelated patients with a UCMD clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2, and COL6A3 and contrast our findings with four UCMD patients with recessively acting splice mutations and two BM patients with heterozygous splice mutations. 18366090 2008
Ullrich congenital muscular dystrophy 1
1.000 Biomarker disease BEFREE Mutations in COL6A1, COL6A2, and COL6A3, the genes that encode the extracellular matrix component collagen VI, lead to Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). 18378883 2008
Ullrich congenital muscular dystrophy 1
1.000 Biomarker disease BEFREE Here we report 10 unrelated patients with a UCMD clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2, and COL6A3 and contrast our findings with four UCMD patients with recessively acting splice mutations and two BM patients with heterozygous splice mutations. 18366090 2008
Ullrich congenital muscular dystrophy 1
1.000 CausalMutation disease CLINVAR Here we report 10 unrelated patients with a UCMD clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2, and COL6A3 and contrast our findings with four UCMD patients with recessively acting splice mutations and two BM patients with heterozygous splice mutations. 18366090 2008
Ullrich congenital muscular dystrophy 1
1.000 Biomarker disease GENOMICS_ENGLAND Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). 15689448 2005
Ullrich congenital muscular dystrophy 1
1.000 GeneticVariation disease BEFREE Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). 15563506 2005
Ullrich congenital muscular dystrophy 1
1.000 GeneticVariation disease UNIPROT Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). 15689448 2005
Ullrich congenital muscular dystrophy 1
1.000 Biomarker disease BEFREE Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). 15689448 2005
Ullrich congenital muscular dystrophy 1
1.000 CausalMutation disease CLINVAR Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 15563506 2005
Ullrich congenital muscular dystrophy 1
1.000 Biomarker disease BEFREE Dominant mutations in COL6A1, COL6A2, and COL6A3, the three genes encoding collagen type VI, a ubiquitous extracellular matrix protein, are associated with Bethlem myopathy (BM) and Ullrich scleroatonic muscular dystrophy. 15955946 2005
Ullrich congenital muscular dystrophy 1
1.000 Biomarker disease BEFREE Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities. 16141002 2005
Ullrich congenital muscular dystrophy 1
1.000 GeneticVariation disease BEFREE We undertook two prenatal diagnoses for UCMD in a consanguineous family where the disease was consistent with linkage to the COL6A3 locus and immunolabelling of collagen VI in the proband's skeletal muscle was severely reduced. 15229843 2004
Ullrich congenital muscular dystrophy 1
1.000 GeneticVariation disease BEFREE Mutations in the COL6A1, COL6A2 (21 q22.3) and COL6A3 (2 q37) genes, encoding the alpha 1, alpha 2 and alpha 3 chains of collagen VI, respectively, have been recently identified as responsible for UCMD in a total of 9 families. 15127309 2004
Ullrich congenital muscular dystrophy 1
1.000 Biomarker disease BEFREE Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich congenital muscular dystrophy (UCMD), a frequently severe disorder characterized by congenital muscle weakness with joint contractures and coexisting distal joint hyperlaxity. 12840783 2003
Ullrich congenital muscular dystrophy 1
1.000 GeneticVariation disease BEFREE Mutations in COL6A3 are described in UCMD for the first time and illustrate the wide spectrum of phenotypes which can be caused by collagen VI deficiency. 11992252 2002
Ullrich congenital muscular dystrophy 1
1.000 Biomarker disease GENOMICS_ENGLAND Mutations in COL6A3 are described in UCMD for the first time and illustrate the wide spectrum of phenotypes which can be caused by collagen VI deficiency. 11992252 2002
Ullrich congenital muscular dystrophy 1
1.000 Biomarker disease CTD_human