DisGeNET - a database of gene-disease associations

Ehlers-Danlos Syndrome, Type IV, C0268338

Variant: rs587779427 ×

Source: CLINVAR ×

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:

rs587779427

COL3A1

0.800

CausalMutation

CLINVAR

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.

25758994

2015

dbSNP:

rs587779427

COL3A1

0.800

CausalMutation

CLINVAR

Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).

24922459

2014

dbSNP:

rs587779427

COL3A1

0.800

CausalMutation

CLINVAR

Collagen structure and stability.

19344236

2009

dbSNP:

rs587779427

COL3A1

0.800

CausalMutation

CLINVAR

An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management.

19248182

2009

dbSNP:

rs587779427

COL3A1

0.800

CausalMutation

CLINVAR

Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

7695699

1994

dbSNP:

rs587779427

COL3A1

0.800

CausalMutation

CLINVAR

Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

8218237

1993