Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
0.700 CausalMutation disease CLINVAR Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. 26657514 2016
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
0.700 GeneticVariation disease UNIPROT Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. 26657514 2016
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
0.700 GeneticVariation disease UNIPROT PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. 25808372 2015
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
0.700 CausalMutation disease CLINVAR PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. 25808372 2015
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
0.700 CausalMutation disease CLINVAR Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family. 10528257 1999
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
0.700 GermlineCausalMutation disease ORPHANET
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
0.700 Biomarker disease CTD_human