DisGeNET - a database of gene-disease associations

EPHB4, EPH receptor B4, 2050

N. diseases: 157; N. variants: 27

Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 ×

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:

rs776410552

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.800

GeneticVariation

CLINVAR

EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.

28730721

2017

dbSNP:

rs776410552

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs776410552

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1330628156

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

30578106

2019

dbSNP:

rs1417508111

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

30578106

2019

dbSNP:

rs61735971

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

30578106

2019

dbSNP:

rs745584371

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

30578106

2019

dbSNP:

rs764827256

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

30578106

2019

dbSNP:

rs769965440

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

30578106

2019

dbSNP:

rs776305185

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

30578106

2019

dbSNP:

rs1330628156

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

29444212

2018

dbSNP:

rs1417508111

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

29444212

2018

dbSNP:

rs61735971

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

29444212

2018

dbSNP:

rs745584371

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

29444212

2018

dbSNP:

rs764827256

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

29444212

2018

dbSNP:

rs769965440

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

29444212

2018

dbSNP:

rs776305185

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

29444212

2018

dbSNP:

rs1330628156

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

28687708

2017

dbSNP:

rs1330628156

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.

28730721

2017

dbSNP:

rs1417508111

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

28687708

2017

dbSNP:

rs1417508111

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.

28730721

2017

dbSNP:

rs1562969219

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

CLINVAR

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

28687708

2017

dbSNP:

rs377702127

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

CLINVAR

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

28687708

2017

dbSNP:

rs61735971

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.

28730721

2017

dbSNP:

rs61735971

Entrez Id:	2050
Gene Symbol:	EPHB4

EPHB4

CUI:	C4748670
Disease:

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2

0.700

GeneticVariation

UNIPROT

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

28687708

2017