DisGeNET - a database of gene-disease associations

Ehlers-Danlos Syndrome, Type IV, C0268338

Gene: COL3A1 ×

Source: UNIPROT ×

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:

rs112978464

rs112978464

COL3A1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs587779428

rs587779428

COL3A1

0.810

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs121912913

rs121912913

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs121912914

rs121912914

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs121912915

rs121912915

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs121912916

rs121912916

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs121912917

rs121912917

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs121912918

rs121912918

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs121912919

rs121912919

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs121912921

rs121912921

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs121912922

rs121912922

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs121912923

rs121912923

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs121912924

rs121912924

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs121912925

rs121912925

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs121912926

rs121912926

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs121912927

rs121912927

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs121912928

rs121912928

COL3A1 ; MIR3606

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs1553507557

rs1553507557

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs587779419

rs587779419

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs587779420

rs587779420

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs587779427

rs587779427

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs587779431

rs587779431

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs587779436

rs587779436

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs587779464

rs587779464

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992

dbSNP:

rs587779465

rs587779465

COL3A1

0.800

GeneticVariation

UNIPROT

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

1992