DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Eyelid Xanthoma ×

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:	C0155210
Disease:	Eyelid Xanthoma

Eyelid Xanthoma

0.110

CausalMutation

CLINVAR

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0155210
Disease:	Eyelid Xanthoma

Eyelid Xanthoma

0.110

Biomarker

HPO

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0155210
Disease:	Eyelid Xanthoma

Eyelid Xanthoma

0.110

GeneticVariation

CLINVAR