DisGeNET - a database of gene-disease associations

EFNB1, ephrin B1, 1947

N. diseases: 134; N. variants: 19

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894796

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

GeneticVariation

UNIPROT

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

15959873

2005

dbSNP:

rs104894801

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

GeneticVariation

UNIPROT

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

15959873

2005

dbSNP:

rs28935170

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

GeneticVariation

UNIPROT

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

15959873

2005

dbSNP:

rs104894796

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

GeneticVariation

UNIPROT

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

15166289

2004

dbSNP:

rs104894796

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

GeneticVariation

UNIPROT

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

15124102

2004

dbSNP:

rs104894801

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

GeneticVariation

UNIPROT

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

15124102

2004

dbSNP:

rs104894801

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

GeneticVariation

UNIPROT

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

15166289

2004

dbSNP:

rs28935170

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

GeneticVariation

UNIPROT

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

15166289

2004

dbSNP:

rs28935170

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

GeneticVariation

UNIPROT

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

15124102

2004

dbSNP:

rs104894796

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894801

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

CausalMutation

CLINVAR

dbSNP:

rs28935170

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

CausalMutation

CLINVAR

dbSNP:

rs28936069

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

CausalMutation

CLINVAR

dbSNP:

rs28936069

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

GeneticVariation

UNIPROT

dbSNP:

rs28936070

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

CausalMutation

CLINVAR

dbSNP:

rs28936070

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

GeneticVariation

UNIPROT

dbSNP:

rs28936071

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

CausalMutation

CLINVAR

dbSNP:

rs28936071

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0220767
Disease:

Craniofrontonasal dysplasia

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1556105875

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.

28140668

2018

dbSNP:

rs1556105875

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Report of a family with craniofrontonasal syndrome.

25486017

2015

dbSNP:

rs1556105875

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation.

26180728

2015

dbSNP:

rs1556105875

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

24281372

2014

dbSNP:

rs1556105875

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

23335590

2013

dbSNP:

rs1556105875

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.

16143553

2006

dbSNP:

rs1556105875

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

16685650

2006