Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE All of them are monoallelic except for the two recent reports showing that biallelic variants in COL2A1 can cause spondyloepiphyseal dysplasia congenita in two children. 31755234 2020
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE Missense mutations in the triple helical region of the COL2A1 protein have been associated with lethal spondyloepiphyseal dysplasia (SED). 30932712 2019
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE Our study contributed to the further expansion of the COL2A1 mutation spectrum and provided more information concerning SEDC in the Chinese population through literature review. 27059630 2016
Spondyloepiphyseal dysplasia, congenita
1.000 Biomarker disease BEFREE Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations at glycine in the triple helix of the alpha-1(II) chains of the COL2A1 and clinical findings of SEDC, which may be helpful in the genetic counseling of patients with SEDC. 26030151 2015
Spondyloepiphyseal dysplasia, congenita
1.000 CausalMutation disease CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986 2015
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE c.2224G>A (p.Gly687Ser) is a novel mutation of COL2A1 associated with spondyloepiphyseal dysplasia congenital. 25967556 2015
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE Herein, we describe a unique case of SEDC with mild coxa vara (SEDC-M) caused by double de novo COL2A1 mutations located on the same allele. 25900302 2015
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. 25604898 2015
Spondyloepiphyseal dysplasia, congenita
1.000 GermlineCausalMutation disease ORPHANET Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations at glycine in the triple helix of the alpha-1(II) chains of the COL2A1 and clinical findings of SEDC, which may be helpful in the genetic counseling of patients with SEDC. 26030151 2015
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE This is the first familial report of G546S mutation in the COL2A1 gene that results in SEDC. 24736929 2014
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations in the COL2A1 gene and clinical findings of SEDC. 23932928 2014
Spondyloepiphyseal dysplasia, congenita
1.000 Biomarker disease GENOMICS_ENGLAND Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 21922596 2012
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE Our study extends the mutation spectrum of SED and confirms a relationship between mutations in the COL2A1 gene and clinical findings of SED. 23079993 2012
Spondyloepiphyseal dysplasia, congenita
1.000 Biomarker disease MGD A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation. 22028304 2012
Spondyloepiphyseal dysplasia, congenita
1.000 Biomarker disease BEFREE Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. 22791362 2012
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita. 21924244 2011
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family. 21204228 2011
Spondyloepiphyseal dysplasia, congenita
1.000 Biomarker disease MGD Mutation discovery in mice by whole exome sequencing. 21917142 2011
Spondyloepiphyseal dysplasia, congenita
1.000 Biomarker disease GENOMICS_ENGLAND Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134 2010
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE We previously reported a familial G504S mutation in the type II collagen (COL2A1) gene resulting in SEDC. 17920052 2008
Spondyloepiphyseal dysplasia, congenita
1.000 Biomarker disease GENOMICS_ENGLAND Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene. 18541977 2008
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE The pregnant woman we previously reported with SEDC carried the G to A substitution at nucleotide 1510 in exon 23 of COL2A1 gene, which caused a change from glycine to serine at codon 504 (G504S). 19072565 2008
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE Arginine to cysteine mutations are rather infrequent COL2A1 mutations which cause a spectrum of phenotypes including classic SEDC and Stickler dysplasia, but also some unusual entities that have not yet been recognised and described as type II collagenopathies. 16155195 2006
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE Phenotype of the twin girls resembles spondyloepiphyseal dysplasia congenita Spranger-Wiedemann (SEDC-SW), but shortening of the stature is more severe and the cranioface is normal. 16088915 2005
Spondyloepiphyseal dysplasia, congenita
1.000 GeneticVariation disease BEFREE Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations. 15895462 2005