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: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
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
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 Biomarker disease GENOMICS_ENGLAND Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134 2010
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease BEFREE Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by a dominant mutation in the type II collagen gene (COL2A1). 20583175 2010
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease UNIPROT A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. 17994563 2007
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease BEFREE Achondrogenesis type II (ACG2) is the most severe disorder that can be produced by dominant mutations in COL2A1. 17994563 2007
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease UNIPROT Achondrogenesis type II is a lethal skeletal dysplasia caused by new dominant mutations within the type II collagen gene (COL2A1). 15054848 2004
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease BEFREE Achondrogenesis type II is a lethal skeletal dysplasia caused by new dominant mutations within the type II collagen gene (COL2A1). 15054848 2004
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 Biomarker disease GENOMICS_ENGLAND Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. 15316962 2004
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 Biomarker disease MGD Role of collagen type II and perlecan in skeletal development. 12814946 2003
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 Biomarker disease MGD The role of collagen II and cartilage fibril-associated molecules in skeletal development. 11680679 2001
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease BEFREE Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. 10797431 2000
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GermlineCausalMutation disease ORPHANET They also demonstrate that most, if not all, patients with achondrogenesis type II/hypochondrogenesis have mutations in the COL2A1 gene. 10797431 2000
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease BEFREE Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1). 10745044 2000
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease UNIPROT Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1). 10745044 2000
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease UNIPROT They also demonstrate that most, if not all, patients with achondrogenesis type II/hypochondrogenesis have mutations in the COL2A1 gene. 10797431 2000
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease BEFREE A heterozygous mutation in the COL2A1 gene was identified in a patient with hypochondrogenesis. 8723098 1996
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease BEFREE A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage. 7829510 1995
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease UNIPROT A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage. 7829510 1995
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 Biomarker disease CTD_human Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships. 7741714 1995
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease UNIPROT A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer. 7757081 1995
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease UNIPROT Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis. 7757086 1995
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease BEFREE Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes. 8175802 1994
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease BEFREE Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis. 1374906 1992
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 GeneticVariation disease BEFREE An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. 1429602 1992
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
1.000 Biomarker disease GENOMICS_ENGLAND Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. 2543071 1989