DisGeNET - a database of gene-disease associations

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, C1859298

Variant: rs869025292 ×

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:

rs869025292

ENTR1 ; PMPCA

0.800

GeneticVariation

UNIPROT

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

26657514

2016

dbSNP:

rs869025292

ENTR1 ; PMPCA

0.800

GeneticVariation

UNIPROT

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

25808372

2015

dbSNP:

rs869025292

ENTR1 ; PMPCA

0.800

CausalMutation

CLINVAR