DisGeNET - a database of gene-disease associations

LRP5, LDL receptor related protein 5, 4041

N. diseases: 283; N. variants: 99

Disease: Exudative vitreoretinopathy 1 ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs201030241

Entrez Id:	4041
Gene Symbol:	LRP5

LRP5

CUI:	C1851402
Disease:

Exudative vitreoretinopathy 1

0.700

GeneticVariation

UNIPROT

Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.

27228167

2016

dbSNP:

rs1320065036

Entrez Id:	4041
Gene Symbol:	LRP5

LRP5

CUI:	C1851402
Disease:

Exudative vitreoretinopathy 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1332274863

Entrez Id:	4041
Gene Symbol:	LRP5

LRP5

CUI:	C1851402
Disease:

Exudative vitreoretinopathy 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs989864153

Entrez Id:	4041
Gene Symbol:	LRP5

LRP5

CUI:	C1851402
Disease:

Exudative vitreoretinopathy 1

0.700

GeneticVariation

UNIPROT