DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Hyperlipoproteinemia Type IIa ×

Gene: EPHX2 ×

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:	2053
Gene Symbol:	EPHX2

EPHX2

CUI:	C0745103
Disease:	Hyperlipoproteinemia Type IIa

Hyperlipoproteinemia Type IIa

0.610

GeneticVariation

BEFREE

These results indicate a significant modification of the phenotype of FH with defective LDLR allele by EPHX2-287Arg variation in our studied kindred.

14673705

2004

Entrez Id:	2053
Gene Symbol:	EPHX2

EPHX2

CUI:	C0745103
Disease:	Hyperlipoproteinemia Type IIa

Hyperlipoproteinemia Type IIa

0.610

SusceptibilityMutation

CLINVAR

Entrez Id:	2053
Gene Symbol:	EPHX2

EPHX2

CUI:	C0745103
Disease:	Hyperlipoproteinemia Type IIa

Hyperlipoproteinemia Type IIa

0.610

Biomarker

CTD_human

Entrez Id:	2053
Gene Symbol:	EPHX2

EPHX2

CUI:	C0745103
Disease:	Hyperlipoproteinemia Type IIa

Hyperlipoproteinemia Type IIa

0.610

Biomarker

GENOMICS_ENGLAND