DisGeNET - a database of gene-disease associations

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder), C1857747

Variant: rs121908683 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908683

rs121908683

PLA2G6

0.700

GeneticVariation

UNIPROT

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

2006