DisGeNET - a database of gene-disease associations

Source: MGD

Disease: Chondrodysplasia punctata, X-linked dominant type ×

Gene: EBP ×

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:	10682
Gene Symbol:	EBP

EBP

EBP cholestenol delta-isomerase

0.494

0.846

0.94

CUI:	C0282102
Disease:	Chondrodysplasia punctata, X-linked dominant type

Chondrodysplasia punctata, X-linked dominant type

disease

1.000

strong

1.000

0

1983

2019