DisGeNET - a database of gene-disease associations

COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121912898

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

dbSNP:

rs121912875

Entrez Id:	1280;105369752
Gene Symbol:	COL2A1;LOC105369752

COL2A1;LOC105369752

CUI:	C0700635
Disease:

Strudwick syndrome

0.800

GeneticVariation

UNIPROT

Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.

16088915

2005

dbSNP:

rs121912880

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0700635
Disease:

Strudwick syndrome

0.800

GeneticVariation

UNIPROT

Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.

16088915

2005

dbSNP:

rs121912881

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0700635
Disease:

Strudwick syndrome

0.800

GeneticVariation

UNIPROT

Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.

16088915

2005

dbSNP:

rs121912885

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C1836080
Disease:

Stickler Syndrome, Type I, Nonsyndromic Ocular

0.800

GeneticVariation

UNIPROT

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.

15671297

2005

dbSNP:

rs121912889

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C1835437
Disease:

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

0.800

GeneticVariation

UNIPROT

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.

15643621

2005

dbSNP:

rs121912891

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C4551562
Disease:

AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1

0.800

GeneticVariation

UNIPROT

Type II collagen gene variants and inherited osteonecrosis of the femoral head.

15930420

2005

dbSNP:

rs121912895

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0700635
Disease:

Strudwick syndrome

0.800

GeneticVariation

UNIPROT

Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.

16088915

2005

dbSNP:

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

Type II collagen gene variants and inherited osteonecrosis of the femoral head.

15930420

2005

dbSNP:

rs121912878

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

GeneticVariation

UNIPROT

Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.

15054848

2004

dbSNP:

rs121912879

Entrez Id:	1280;105369752
Gene Symbol:	COL2A1;LOC105369752

COL2A1;LOC105369752

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

GeneticVariation

UNIPROT

Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.

15054848

2004

dbSNP:

rs121912888

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

GeneticVariation

UNIPROT

Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.

15054848

2004

dbSNP:

rs121912889

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C1835437
Disease:

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

0.800

GeneticVariation

UNIPROT

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.

14729840

2004

dbSNP:

rs121912870

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C2745959
Disease:

Spondyloepiphyseal dysplasia, congenita

0.800

GeneticVariation

UNIPROT

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

11746045

2001

dbSNP:

rs121912874

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C2745959
Disease:

Spondyloepiphyseal dysplasia, congenita

0.800

GeneticVariation

UNIPROT

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

11746045

2001

dbSNP:

rs121912883

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C2745959
Disease:

Spondyloepiphyseal dysplasia, congenita

0.800

GeneticVariation

UNIPROT

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

11746045

2001

dbSNP:

rs121912886

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C2745959
Disease:

Spondyloepiphyseal dysplasia, congenita

0.800

GeneticVariation

UNIPROT

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

11746045

2001

dbSNP:

rs121912870

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C2745959
Disease:

Spondyloepiphyseal dysplasia, congenita

0.800

GeneticVariation

UNIPROT

Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.

10678662

2000

dbSNP:

rs121912874

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C2745959
Disease:

Spondyloepiphyseal dysplasia, congenita

0.800

GeneticVariation

UNIPROT

Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.

10678662

2000

dbSNP:

rs121912878

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

GeneticVariation

UNIPROT

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.

10797431

2000

dbSNP:

rs121912878

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

GeneticVariation

UNIPROT

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

10745044

2000

dbSNP:

rs121912879

Entrez Id:	1280;105369752
Gene Symbol:	COL2A1;LOC105369752

COL2A1;LOC105369752

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

GeneticVariation

UNIPROT

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.

10797431

2000

dbSNP:

rs121912879

Entrez Id:	1280;105369752
Gene Symbol:	COL2A1;LOC105369752

COL2A1;LOC105369752

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

GeneticVariation

UNIPROT

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

10745044

2000

dbSNP:

rs121912883

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C2745959
Disease:

Spondyloepiphyseal dysplasia, congenita

0.800

GeneticVariation

UNIPROT

Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.

10678662

2000

dbSNP:

rs121912884

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C2020284
Disease:

Stickler syndrome, type 1

0.800

GeneticVariation

UNIPROT

Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.

11007540

2000