DisGeNET - a database of gene-disease associations

Infantile Neuroaxonal Dystrophy, C0270724

Variant: rs587784339 ×

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:

rs587784339

PLA2G6

0.700

CausalMutation

CLINVAR

Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.

25164370

2015

dbSNP:

rs587784339

PLA2G6

0.700

CausalMutation

CLINVAR

Exome sequencing as a diagnostic tool for pediatric-onset ataxia.

24108619

2014

dbSNP:

rs587784339

PLA2G6

0.700

CausalMutation

CLINVAR

Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.

22934738

2013

dbSNP:

rs587784339

PLA2G6

0.700

CausalMutation

CLINVAR

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

16783378

2006