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:

rs1565679039

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C4025844
Disease:

Abnormal chorioretinal morphology

0.700

CausalMutation

CLINVAR

dbSNP:

rs1565679039

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C4021945
Disease:

Abnormality of globe size

0.700

CausalMutation

CLINVAR

dbSNP:

rs1565679039

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C4316811
Disease:

Abnormality of the nasal septum

0.700

CausalMutation

CLINVAR

dbSNP:

rs765795867

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C1860191
Disease:

Absent vertebral body mineralization

0.700

CausalMutation

CLINVAR

dbSNP:

rs121912878

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

GeneticVariation

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

dbSNP:

rs121912878

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

GeneticVariation

UNIPROT

Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.

2572591

1989

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:

rs121912878

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs121912878

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

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:

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:

rs121912878

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

GeneticVariation

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

dbSNP:

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

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

COL2A1;LOC105369752

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

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:

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:

rs121912879

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

COL2A1;LOC105369752

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs121912879

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

COL2A1;LOC105369752

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

GeneticVariation

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

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:

rs121912879

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

COL2A1;LOC105369752

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

GeneticVariation

UNIPROT

Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.

2572591

1989

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:

rs121912879

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

COL2A1;LOC105369752

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

GeneticVariation

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

dbSNP:

rs121912888

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

GeneticVariation

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

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:

rs121912888

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0220685
Disease:

Achondrogenesis type 2

0.800

GeneticVariation

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