DisGeNET - a database of gene-disease associations

PLEKHA1, pleckstrin homology domain containing A1, 59338

N. diseases: 17; N. variants: 40

Disease: Age related macular degeneration ×

Variant: rs4612730 ×

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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs4612730

Entrez Id:	59338;100500866
Gene Symbol:	PLEKHA1;MIR3941

PLEKHA1;MIR3941

CUI:	C0242383
Disease:

Age related macular degeneration

0.700

GeneticVariation

GWASDB

Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.

23326517

2013