DisGeNET - a database of gene-disease associations

Ehlers-Danlos Syndrome, Type IV, C0268338

Gene: COL3A1 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587779428

COL3A1

0.810

GeneticVariation

UNIPROT

A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.

1357232

1992

dbSNP:

rs587779428

COL3A1

0.810

GeneticVariation

UNIPROT

The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.

8411057

1993

dbSNP:

rs111505097

COL3A1

0.800

GeneticVariation

UNIPROT

Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

24882528

2014

dbSNP:

rs111505097

COL3A1

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs111505097

COL3A1

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs111505097

COL3A1

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs111505097

COL3A1

0.800

GeneticVariation

UNIPROT

2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).

25173340

2014

dbSNP:

rs111505097

COL3A1

0.800

GeneticVariation

UNIPROT

Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

25355838

2014

dbSNP:

rs112456072

COL3A1

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs112456072

COL3A1

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs112456072

COL3A1

0.800

GeneticVariation

UNIPROT

25173340

2014

dbSNP:

rs112456072

COL3A1

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs112456072

COL3A1

0.800

GeneticVariation

UNIPROT

Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

25355838

2014

dbSNP:

rs112456072

COL3A1

0.800

GeneticVariation

UNIPROT

Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

24882528

2014

dbSNP:

rs113485686

COL3A1

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs113485686

COL3A1

0.800

GeneticVariation

UNIPROT

Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

25355838

2014

dbSNP:

rs113485686

COL3A1

0.800

GeneticVariation

UNIPROT

Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

24882528

2014

dbSNP:

rs113485686

COL3A1

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs113485686

COL3A1

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs113485686

COL3A1

0.800

GeneticVariation

UNIPROT

25173340

2014

dbSNP:

rs121912913

COL3A1

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs121912913

COL3A1

0.800

GeneticVariation

UNIPROT

Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.

8019562

1994

dbSNP:

rs121912913

COL3A1

0.800

GeneticVariation

UNIPROT

Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation.

8884076

1996

dbSNP:

rs121912913

COL3A1

0.800

GeneticVariation

UNIPROT

Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

1496983

1992

dbSNP:

rs121912913

COL3A1

0.800

GeneticVariation

UNIPROT

Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.

12694234

2003