DisGeNET - a database of gene-disease associations

rs121434491, EFEMP1;LOC112268416

N. diseases: 15

Disease: Macular degeneration ×

Source: ALL

Results per page

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Macular degeneration

CUI:	C0024437
Disease:	Macular degeneration

0.010

GeneticVariation

BEFREE

The mutation R345W in EFEMP1 (fibulin-3) causes macular degeneration.

2017