DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Hypercholesterolemia result ×

Gene: LDLR ×

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:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C1522133
Disease:	Hypercholesterolemia result

Hypercholesterolemia result

0.100

GeneticVariation

CLINVAR

Racial differences in the frequencies of scleroderma-related autoantibodies.

1734910

1992

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C1522133
Disease:	Hypercholesterolemia result

Hypercholesterolemia result

0.100

GeneticVariation

CLINVAR

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

1301956

1992

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C1522133
Disease:	Hypercholesterolemia result

Hypercholesterolemia result

0.100

CausalMutation

CLINVAR