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: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
0.730 GeneticVariation disease BEFREE These two cases together with a third case of SMD corner fracture type with a heterozygous COL2A1 pathogenic variant previously described suggest that this disorder overlaps with type II collagenopathies. 27888646 2017
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
0.730 GeneticVariation disease BEFREE Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). 26250472 2015
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
0.730 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: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
0.730 Biomarker disease GENOMICS_ENGLAND Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134 2010
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
0.730 GeneticVariation disease UNIPROT Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. 16088915 2005
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
0.730 GeneticVariation disease BEFREE To determine whether the autosomal dominant Strudwick-type SEMD in a three-generation family, showing specific phenotypical features such as chest deformity, limb shortening, myopia and early-onset degenerative osteoarthrosis, might be caused by a novel COL2A1 mutation. 12925722 2003
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
0.730 GermlineCausalMutation disease ORPHANET Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. 7550321 1995
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
0.730 GeneticVariation disease UNIPROT Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. 7550321 1995
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
0.730 Biomarker disease GENOMICS_ENGLAND Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. 2543071 1989
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
0.730 CausalMutation disease CLINVAR
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
0.730 Biomarker disease CTD_human
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
0.730 Biomarker disease HPO