DisGeNET - a database of gene-disease associations

Action Myoclonus-Renal Failure Syndrome, C0751779

Variant: rs886041077 ×

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:

rs886041077

rs886041077

SCARB2

GA

0.700

CausalMutation

CLINVAR

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

2012