COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Chondrodysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 GeneticVariation disease BEFREE The identified spontaneous missense mutation within COL2A1 is most likely the cause of lethal chondrodysplasia in the progeny of Energy P through a dominant negative effect. 29017490 2017
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 Biomarker disease BEFREE Other vitreoretinal degenerations including a number of chondrodysplasias in addition to STL1 and STL2, enhanced S-cone syndrome caused by mutations in NR2E3, and autosomal dominant vitreoretinochoroidopathy caused by mutations in VMD2 are discussed. 18309337 2008
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 GeneticVariation disease BEFREE While it remains true that most individuals with COL2A1 mutations have chondrodysplasia with a spondylo-epiphyseal pattern, metaphyseal involvement is not incompatible with a COL2A1 dysplasia and mutation analysis can be indicated. 17163530 2007
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 GeneticVariation disease BEFREE These interactions can be altered by mutations in the COL2A1 gene found in patients with a variety of heritable cartilage disorders known as chondrodysplasias. 15522781 2004
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 Biomarker disease BEFREE Mutations in genes coding for cartilage collagens II and XI, COL2A1, COL11A1 and COL11A2, have been shown to cause chondrodysplasias that are commonly associated with Robin sequence, micrognathia or cleft palate. 12673280 2003
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 Biomarker disease BEFREE A DNA construct under the control of a COL2A1 specific promoter was prepared from genomic DNA isolated from fibroblasts from the proband with primary generalized osteoarthritis (OA) associated with a mild chondrodysplasia. 12359167 2002
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 GeneticVariation disease BEFREE A single-base mutation resulting in an arginine-519-cysteine (R519C) mutation of type II procollagen (COL2A1) has been shown to result in precocious osteoarthritis with mild spinal chondrodysplasia without severe foreshortening (OMIM 604864). 11708863 2001
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 GeneticVariation disease BEFREE Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis. 7612049 1995
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 GeneticVariation disease BEFREE A clinical spectrum of chondrodysplasia phenotypes, ranging from mild to perinatal lethal, is due to defects in the gene for type II collagen, COL2A1. 7550321 1995
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 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: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 Biomarker disease BEFREE An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints. 8349798 1993
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 GeneticVariation disease BEFREE No basic defect has been found in patients with Kniest dysplasia, whereas Stickler dysplasia is one of four chondrodysplasias for which mutations of type II procollagen gene (COL2A1) have been identified. 7981752 1993
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 GeneticVariation disease BEFREE Comparison with previously reported mutations suggested that mutations introducing premature termination codons in the COL2A1 gene are a frequent cause of the Stickler syndrome, but mutations in the COL2A1 gene that replace glycine codons with codons for bulkier amino acid can produce a broad spectrum of disorders that range from lethal chondrodysplasias to a syndrome involving only ocular tissues, similar to the syndrome in the family originally described by Wagner in 1938. 8317498 1993
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 GeneticVariation disease BEFREE This case further documents the molecular basis of the spondyloepiphyseal dysplasia spectrum of chondrodysplasias as mutations in COL2A1. 1429602 1992
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 Biomarker disease BEFREE Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia. 1881905 1991
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 GeneticVariation disease BEFREE Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. 1975693 1990
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.100 Biomarker disease BEFREE Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias. 2902229 1988