COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type
0.840 GeneticVariation BEFREE The p.(Arg275Cys) substitution is found in all patients with COL2A1-associated Czech dysplasia. 26443184 2016
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type
0.840 GeneticVariation BEFREE A specific missense mutation (c.823C > T, R275C) in the exon 13 of the COL2A1 gene, coding for the triple helical domain of the alpha 1 chain of the type II collagen, has been linked to Czech dysplasia, which is quite a unique situation among the COL2A1 disorders. 19764028 2009
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type
0.840 GeneticVariation UNIPROT A specific missense mutation (c.823C > T, R275C) in the exon 13 of the COL2A1 gene, coding for the triple helical domain of the alpha 1 chain of the type II collagen, has been linked to Czech dysplasia, which is quite a unique situation among the COL2A1 disorders. 19764028 2009
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type
0.840 GeneticVariation BEFREE Czech dysplasia is caused by a specific missense mutation (R275C, c.823C > T) in the triple helical domain of the COL2A1 gene. 18553548 2008
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type
0.840 GeneticVariation UNIPROT Thus, Czech dysplasia is possibly caused exclusively by the R275C mutation, which is a unique situation among the COL2A1 disorders. 18553548 2008
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type
0.840 GeneticVariation BEFREE The R275C mutation in the COL2A1 gene causes a specific type II collagen disorder that was recently delineated as Czech dysplasia. 17726487 2007
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type
0.840 GeneticVariation 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
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type
0.840 GeneticVariation UNIPROT Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1). 8244341 1993
dbSNP: rs121912876
rs121912876
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease:
Czech dysplasia, metatarsal type
A 0.840 CausalMutation CLINVAR
dbSNP: rs121912891
rs121912891
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0023234
Disease:
Legg-Calve-Perthes Disease
0.820 GeneticVariation BEFREE A new type II collagenopathy, caused by the p.Gly1170Ser mutation of COL2A1, which presents as premature hip osteoarthritis (OA), avascular necrosis of the femoral head (ANFH) or Legg-Calvé-Perthes (LCP) disease, was recently found in several families with an inherited disease of the hip joint. 20204389 2010
dbSNP: rs121912891
rs121912891
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0023234
Disease:
Legg-Calve-Perthes Disease
0.820 GeneticVariation UNIPROT A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family. 17394019 2007
dbSNP: rs121912891
rs121912891
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0023234
Disease:
Legg-Calve-Perthes Disease
0.820 GeneticVariation BEFREE We have located a missense mutation (p.G1170S) in the type II collagen gene (COL2A1) in a Japanese family with an autosomal dominant hip disorder manifesting as LCPD and showing considerable intra-familial phenotypic variation. 17394019 2007
dbSNP: rs121912891
rs121912891
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0023234
Disease:
Legg-Calve-Perthes Disease
T 0.820 CausalMutation CLINVAR
dbSNP: rs869312907
rs869312907
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4225273
Disease:
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
0.810 GeneticVariation BEFREE We suggest that the p.Gly207Arg variant causes a distinct type II collagenopathy with features of PPRD and SED, Stanescu type. 26183434 2015
dbSNP: rs869312907
rs869312907
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4225273
Disease:
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
T 0.810 CausalMutation CLINVAR
dbSNP: rs869312907
rs869312907
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4225273
Disease:
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
0.810 GeneticVariation UNIPROT
dbSNP: rs121912891
rs121912891
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4551562
Disease:
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
0.800 GeneticVariation UNIPROT Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1. 21671384 2011
dbSNP: rs387906558
rs387906558
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C4551562
Disease:
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
0.800 GeneticVariation UNIPROT Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1. 21671384 2011
dbSNP: rs121912884
rs121912884
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2020284
Disease:
Stickler syndrome, type 1
0.800 GeneticVariation UNIPROT Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134 2010
dbSNP: rs121912872
rs121912872
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836080
Disease:
Stickler Syndrome, Type I, Nonsyndromic Ocular
0.800 GeneticVariation UNIPROT Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. 17721977 2008
dbSNP: rs121912898
rs121912898
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836080
Disease:
Stickler Syndrome, Type I, Nonsyndromic Ocular
0.800 GeneticVariation UNIPROT Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. 17721977 2008
dbSNP: rs121912878
rs121912878
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease:
Achondrogenesis type 2
0.800 GeneticVariation UNIPROT "A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father." 17994563 2007
dbSNP: rs121912879
rs121912879
Entrez Id: 1280;105369752
Gene Symbol: COL2A1;LOC105369752
COL2A1;LOC105369752
CUI: C0220685
Disease:
Achondrogenesis type 2
0.800 GeneticVariation UNIPROT "A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father." 17994563 2007
dbSNP: rs121912888
rs121912888
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease:
Achondrogenesis type 2
0.800 GeneticVariation UNIPROT "A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father." 17994563 2007
dbSNP: rs121912872
rs121912872
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836080
Disease:
Stickler Syndrome, Type I, Nonsyndromic Ocular
0.800 GeneticVariation UNIPROT High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. 16752401 2006