DisGeNET - a database of gene-disease associations

ABHD2, abhydrolase domain containing 2, 11057

N. diseases: 17; N. variants: 3

Disease: Age related macular degeneration ×

Variant: rs4932480 ×

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:

rs4932480

Entrez Id:	11057
Gene Symbol:	ABHD2

ABHD2

CUI:	C0242383
Disease:

Age related macular degeneration

0.700

GeneticVariation

GWASCAT

Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.

28813576

2017