DisGeNET - a database of gene-disease associations

Hyperlipoproteinemia Type IIa, C0745103

Gene: GHR ×

Source: ALL

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2690
Gene Symbol:	GHR

GHR

0.510

GeneticVariation

disease

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.

2003

Entrez Id:	2690
Gene Symbol:	GHR

GHR

0.510

Biomarker

disease

CTD_human

Entrez Id:	2690
Gene Symbol:	GHR

GHR

0.510

Biomarker

disease

GENOMICS_ENGLAND