DisGeNET - a database of gene-disease associations

rs869025292, ENTR1;PMPCA

N. diseases: 1

Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2

CUI:	C1859298
Disease:	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2

0.800

GeneticVariation

UNIPROT

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

26657514

2016

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2

CUI:	C1859298
Disease:	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2

0.800

GeneticVariation

UNIPROT

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

25808372

2015

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2

CUI:	C1859298
Disease:	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2

0.800

CausalMutation

CLINVAR