DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Ehlers-Danlos Syndrome, Type IV ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	1281
Gene Symbol:	COL3A1

COL3A1

collagen type III alpha 1 chain

0.477

0.808

1.00

CUI:	C0268338
Disease:	Ehlers-Danlos Syndrome, Type IV

Ehlers-Danlos Syndrome, Type IV

disease

1.000

definitive

1.000

1980

2019

Entrez Id:	91252
Gene Symbol:	SLC39A13

SLC39A13

solute carrier family 39 member 13

0.666

0.538

2.5E-03

CUI:	C0268338
Disease:	Ehlers-Danlos Syndrome, Type IV

Ehlers-Danlos Syndrome, Type IV

disease

0.300

None

1.000

0

2008

2008