Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
0.020 GeneticVariation disease BEFREE ADCK3 gene mutations are responsible for the most frequent form of hereditary CoQ10 deficiency (Q10 deficiency-4 OMIM #612016) which is mainly associated with autosomal recessive spinocerebellar ataxia (ARCA2, SCAR9). 30968303 2019
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
0.020 GeneticVariation disease BEFREE Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia. 31078656 2019