DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Orbital separation excessive ×

Gene: EFNB1 ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0020534
Disease:	Orbital separation excessive

Orbital separation excessive

0.400

Biomarker

CTD_human

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

15166289

2004

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0020534
Disease:	Orbital separation excessive

Orbital separation excessive

0.400

Biomarker

HPO