DisGeNET - a database of gene-disease associations

COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337

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:

rs67445413

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.710

GeneticVariation

BEFREE

One was a lethal substitution changing glycine 866 to serine in genetically identical twins with OI type II.

18670065

2008

dbSNP:

rs67445413

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.710

GeneticVariation

UNIPROT

dbSNP:

rs116794104

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs57377812

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs66929517

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs66948146

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs67067133

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs67507747

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs67771061

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72645333

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72648328

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72648330

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72648333

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72648356

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72648363

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72648366

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72651615

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72651629

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72651646

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72651648

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72651649

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72651651

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72651652

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72651653

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015

dbSNP:

rs72651657

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

25958000

2015