DisGeNET - a database of gene-disease associations

EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE, C2700425

Variant: rs137853146 ×

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:

rs137853146

ADAMTS2

0.700

CausalMutation

CLINVAR

Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.

18973246

2008

dbSNP:

rs137853146

ADAMTS2

0.700

CausalMutation

CLINVAR

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

10417273

1999

dbSNP:

rs137853146

ADAMTS2

0.700

CausalMutation

CLINVAR

Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC.

8986271

1997

dbSNP:

rs137853146

ADAMTS2

0.700

CausalMutation

CLINVAR

The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).

7735500

1995

dbSNP:

rs137853146

ADAMTS2

0.700

CausalMutation

CLINVAR

Dermatosparaxis in children. A case report and review of the newly recognized phenotype.

8215497

1993

dbSNP:

rs137853146

ADAMTS2

0.700

CausalMutation

CLINVAR

Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.

1642226

1992