Gene: COX20 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777004
rs587777004
HNRNPU ; COX20
0.800 GeneticVariation UNIPROT The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis. 29154948

2018
dbSNP: rs587777004
rs587777004
HNRNPU ; COX20
0.800 GeneticVariation UNIPROT Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. 24202787

2014
dbSNP: rs587777004
rs587777004
HNRNPU ; COX20
0.800 GeneticVariation UNIPROT A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. 23125284

2013