DisGeNET - a database of gene-disease associations

COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337

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:

rs72653170

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0020497
Disease:

Cortical Congenital Hyperostosis

0.850

GeneticVariation

BEFREE

The common heterozygous mutation of the COL1A1 gene, p.Arg1014Cys, has been reported in patients with Caffey disease.

24390061

2014

dbSNP:

rs72653170

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0020497
Disease:

Cortical Congenital Hyperostosis

0.850

GeneticVariation

BEFREE

The case being reported is a 7- month-old Indian boy with Caffey disease who was found to have the R1014C heterozygous mutation in the COL1A1 gene.

21249479

2011

dbSNP:

rs72653170

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0020497
Disease:

Cortical Congenital Hyperostosis

0.850

GeneticVariation

BEFREE

A heterozygous missense mutation, c.3040C > T (p.R1014C), in the type I collagen alpha1 chain gene (COL1A1) was reported in families with the autosomal dominant form of ICH.

18704262

2008

dbSNP:

rs72653170

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0020497
Disease:

Cortical Congenital Hyperostosis

0.850

GeneticVariation

BEFREE

A heterozygous mutation for a 3040C-->T in exon 41 of COL1A1 was found in affected individuals, further confirming the autosomal dominance of Caffey disease that is caused by this particular mutation.

17309652

2007

dbSNP:

rs72653170

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0020497
Disease:

Cortical Congenital Hyperostosis

0.850

GeneticVariation

BEFREE

Two arginine-to-cysteine substitutions in the alpha1(I)-collagen chain are associated with classic EDS [R134C (p.R312C)] or autosomal dominant Caffey disease with mild EDS features [R836C (p.R1014C)].

17211858

2007

dbSNP:

rs72653170

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0020497
Disease:

Cortical Congenital Hyperostosis

0.850

GeneticVariation

UNIPROT

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

15864348

2005

dbSNP:

rs72653170

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0020497
Disease:

Cortical Congenital Hyperostosis

0.850

CausalMutation

CLINVAR

dbSNP:

rs66721653

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268363
Disease:

Osteogenesis imperfecta type IV (disorder)

0.800

CausalMutation

CLINVAR

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

25944380

2015

dbSNP:

rs72648322

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268363
Disease:

Osteogenesis imperfecta type IV (disorder)

0.800

CausalMutation

CLINVAR

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

25944380

2015

dbSNP:

rs72651645

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268362
Disease:

Osteogenesis imperfecta type III (disorder)

0.800

CausalMutation

CLINVAR

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

25944380

2015

dbSNP:

rs72653178

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268362
Disease:

Osteogenesis imperfecta type III (disorder)

0.800

CausalMutation

CLINVAR

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

25944380

2015

dbSNP:

rs72645331

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0023931
Disease:

Lobstein Disease

0.800

GeneticVariation

UNIPROT

A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.

24682174

2014

dbSNP:

rs72645341

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0023931
Disease:

Lobstein Disease

0.800

GeneticVariation

UNIPROT

A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.

24682174

2014

dbSNP:

rs72645331

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0023931
Disease:

Lobstein Disease

0.800

GeneticVariation

UNIPROT

Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix.

18670065

2008

dbSNP:

rs72645341

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0023931
Disease:

Lobstein Disease

0.800

GeneticVariation

UNIPROT

Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix.

18670065

2008

dbSNP:

rs72645357

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268362
Disease:

Osteogenesis imperfecta type III (disorder)

0.800

GeneticVariation

UNIPROT

Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix.

18670065

2008

dbSNP:

rs72651645

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268362
Disease:

Osteogenesis imperfecta type III (disorder)

0.800

GeneticVariation

UNIPROT

Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix.

18670065

2008

dbSNP:

rs72653178

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268362
Disease:

Osteogenesis imperfecta type III (disorder)

0.800

GeneticVariation

UNIPROT

The second mutation changed glycine 1040 to serine located at the border of D4 and D0.4, in a proband manifesting OI type III, and lowered collagen stability at 39 degrees C (2 degrees C lower than normal).

18670065

2008

dbSNP:

rs66721653

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268363
Disease:

Osteogenesis imperfecta type IV (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.

17875077

2007

dbSNP:

rs72645331

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0023931
Disease:

Lobstein Disease

0.800

GeneticVariation

UNIPROT

Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.

17875077

2007

dbSNP:

rs72645341

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0023931
Disease:

Lobstein Disease

0.800

GeneticVariation

UNIPROT

Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.

17875077

2007

dbSNP:

rs72648322

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268363
Disease:

Osteogenesis imperfecta type IV (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.

17875077

2007

dbSNP:

rs72653169

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268363
Disease:

Osteogenesis imperfecta type IV (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.

17875077

2007

dbSNP:

rs66721653

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268363
Disease:

Osteogenesis imperfecta type IV (disorder)

0.800

GeneticVariation

UNIPROT

Osteogenesis imperfecta: clinical, biochemical and molecular findings.

16879195

2006

dbSNP:

rs66721653

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

CUI:	C0268363
Disease:

Osteogenesis imperfecta type IV (disorder)

0.800

GeneticVariation

UNIPROT

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

16786509

2006