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:

rs1114167414

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs66507857

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs66592844

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs67422093

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72656385

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72658109

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72658114

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72658117

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72658130

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72658136

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72658138

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72658139

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72658141

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72658145

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72658148

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72658155

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72658167

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72658171

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72658174

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72658201

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72659305

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72659317

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72659323

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs72659331

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1206388800

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

CUI:	C0268358
Disease:

Osteogenesis imperfecta, dominant perinatal lethal

0.700

GeneticVariation

UNIPROT

A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta.

7906591

1993