Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025292
rs869025292
Entrez Id: 10807;23203
Gene Symbol: ENTR1;PMPCA
ENTR1;PMPCA
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
dbSNP: rs869025292
rs869025292
Entrez Id: 10807;23203
Gene Symbol: ENTR1;PMPCA
ENTR1;PMPCA
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
dbSNP: rs869025292
rs869025292
Entrez Id: 10807;23203
Gene Symbol: ENTR1;PMPCA
ENTR1;PMPCA
CUI: C1859298
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs4298601
rs4298601
Entrez Id: 10807;23203
Gene Symbol: ENTR1;PMPCA
ENTR1;PMPCA
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4298601
rs4298601
Entrez Id: 10807;23203
Gene Symbol: ENTR1;PMPCA
ENTR1;PMPCA
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1057519454
rs1057519454
Entrez Id: 10807;23203
Gene Symbol: ENTR1;PMPCA
ENTR1;PMPCA
CUI: C1859298
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 		T 0.700 CausalMutation CLINVAR