DisGeNET - a database of gene-disease associations

COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178

Disease: Osteogenesis imperfecta, dominant perinatal lethal ×

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:

rs1206388800

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

18996919

2009

dbSNP:

rs66716547

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

18996919

2009

dbSNP:

rs66999265

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

18996919

2009

dbSNP:

rs72658187

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

18996919

2009

dbSNP:

rs72658188

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

18996919

2009

dbSNP:

rs1206388800

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Osteogenesis imperfecta: clinical, biochemical and molecular findings.

16879195

2006

dbSNP:

rs1206388800

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

16786509

2006

dbSNP:

rs66716547

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

16786509

2006

dbSNP:

rs66716547

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Osteogenesis imperfecta: clinical, biochemical and molecular findings.

16879195

2006

dbSNP:

rs66999265

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

16786509

2006

dbSNP:

rs66999265

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Osteogenesis imperfecta: clinical, biochemical and molecular findings.

16879195

2006

dbSNP:

rs72658187

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

16786509

2006

dbSNP:

rs72658187

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Osteogenesis imperfecta: clinical, biochemical and molecular findings.

16879195

2006

dbSNP:

rs72658188

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Osteogenesis imperfecta: clinical, biochemical and molecular findings.

16879195

2006

dbSNP:

rs72658188

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

16786509

2006

dbSNP:

rs1206388800

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.

10627137

1998

dbSNP:

rs66716547

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.

10627137

1998

dbSNP:

rs66999265

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.

10627137

1998

dbSNP:

rs72658187

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.

10627137

1998

dbSNP:

rs72658188

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.

10627137

1998

dbSNP:

rs1206388800

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen.

7959683

1994

dbSNP:

rs1206388800

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone.

8182080

1994

dbSNP:

rs1206388800

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.

7891382

1994

dbSNP:

rs66716547

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.

7891382

1994

dbSNP:

rs66716547

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone.

8182080

1994