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:

rs587779468

rs587779468

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:

rs587779471

rs587779471

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:

rs587779473

rs587779473

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:

rs587779476

rs587779476

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:

rs587779483

rs587779483

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:

rs587779486

rs587779486

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:

rs587779489

rs587779489

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:

rs587779493

rs587779493

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:

rs587779504

rs587779504

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:

rs587779505

rs587779505

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:

rs587779517

rs587779517

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:

rs587779521

rs587779521

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:

rs587779522

rs587779522

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:

rs587779523

rs587779523

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:

rs587779533

rs587779533

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:

rs587779548

rs587779548

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:

rs587779552

rs587779552

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:

rs587779553

rs587779553

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:

rs587779555

rs587779555

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:

rs587779559

rs587779559

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:

rs587779566

rs587779566

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:

rs587779571

rs587779571

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:

rs587779574

rs587779574

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:

rs587779576

rs587779576

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:

rs587779578

rs587779578

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