COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GeneticVariation disease BEFREE Kniest dysplasia is a type II collagen disorder that arises from a genetic mutation of the COL2A1 gene that results in short stature, midface anomalies, tracheomalacia, and hearing loss. 28109507 2017
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GeneticVariation disease BEFREE The majority of the patients (80/93) had short stature, with radiological features of SEDC (n = 64), others having SEMD (n = 5), Kniest dysplasia (n = 7), spondyloperipheral dysplasia (n = 2), or Torrance-like dysplasia (n = 2). 25604898 2015
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GeneticVariation disease BEFREE In the case study presented here, we report the first description of an association between these two rare diseases involving COL2A1, in a child presenting with Kniest dysplasia and a grade I sphenoethmoidal chondrosarcoma. 26345137 2015
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GeneticVariation disease BEFREE Kniest dysplasia is associated with heterozygous COL2A1 mutations that are frequently de novo. 25592122 2015
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GeneticVariation disease CLINVAR Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia. 23188137 2013
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 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
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 Biomarker disease GENOMICS_ENGLAND Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134 2010
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 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
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GermlineCausalMutation disease ORPHANET 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
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 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
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GeneticVariation disease BEFREE To report a case of Kniest dysplasia with retinal detachment associated with a novel type II collagen gene (COL2A1) mutation. 14644246 2003
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 Biomarker disease CTD_human Tracheomalacia in a neonate with kniest dysplasia: histopathologic and ultrastructural features. 11297324 2001
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GermlineCausalMutation disease ORPHANET These data suggest that Kniest dysplasia results from shorter type II collagen monomers, and support the hypothesis that alteration of a specific COL2A1 domain, which may span from exons 12 to 24, leads to the Kniest dysplasia phenotype. 10406661 1999
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GeneticVariation disease BEFREE These data suggest that Kniest dysplasia results from shorter type II collagen monomers, and support the hypothesis that alteration of a specific COL2A1 domain, which may span from exons 12 to 24, leads to the Kniest dysplasia phenotype. 10406661 1999
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GeneticVariation disease BEFREE The findings support an emerging pattern of COL2A1 mutations that can cause Kniest dysplasia. 9675039 1998
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GeneticVariation disease BEFREE The phenotypes in these children highlight the importance of exon 12 mutations of COL2A1 in the pathogenesis of Kniest dysplasia. 9269170 1997
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GeneticVariation disease UNIPROT The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. 8863156 1996
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GeneticVariation disease BEFREE This study highlights the importance of dominant negative mutations of COL2A1 in producing Kniest dysplasia. 8893763 1996
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GeneticVariation disease BEFREE The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. 8863156 1996
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GeneticVariation disease BEFREE Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia. 7700721 1994
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GeneticVariation disease BEFREE These two cases strengthen the concept that Kniest dysplasia is based on mutations of COL2A1 and belongs within the broad spectrum of chondrodysplasias caused by type II collagenopathies. 7977371 1994
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 GeneticVariation disease UNIPROT Kniest dysplasia is a moderately severe chondrodysplasia phenotype that results from mutations in the gene for type II collagen, COL2A1. 7874117 1994
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 Biomarker disease GENOMICS_ENGLAND Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. 2543071 1989
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
0.800 CausalMutation disease CLINVAR