DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Hyperlipoproteinemia Type IIa ×

Gene: GHR ×

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:	2690
Gene Symbol:	GHR

GHR

CUI:	C0745103
Disease:	Hyperlipoproteinemia Type IIa

Hyperlipoproteinemia Type IIa

0.510

GeneticVariation

BEFREE

The results indicate a significant modification of the phenotype of FH with the defective LDLR allele, by GHR Leu variation in the kindred studied.

12910492

2003

Entrez Id:	2690
Gene Symbol:	GHR

GHR

CUI:	C0745103
Disease:	Hyperlipoproteinemia Type IIa

Hyperlipoproteinemia Type IIa

0.510

Biomarker

CTD_human

Entrez Id:	2690
Gene Symbol:	GHR

GHR

CUI:	C0745103
Disease:	Hyperlipoproteinemia Type IIa

Hyperlipoproteinemia Type IIa

0.510

Biomarker

GENOMICS_ENGLAND

Entrez Id:	2690
Gene Symbol:	GHR

GHR

CUI:	C0745103
Disease:	Hyperlipoproteinemia Type IIa

Hyperlipoproteinemia Type IIa

0.510

Biomarker

GENOMICS_ENGLAND

Entrez Id:	2690
Gene Symbol:	GHR

GHR

CUI:	C0745103
Disease:	Hyperlipoproteinemia Type IIa

Hyperlipoproteinemia Type IIa

0.510

Biomarker

GENOMICS_ENGLAND

Entrez Id:	2690
Gene Symbol:	GHR

GHR

CUI:	C0745103
Disease:	Hyperlipoproteinemia Type IIa

Hyperlipoproteinemia Type IIa

0.510

Biomarker

GENOMICS_ENGLAND