TOP3A, DNA topoisomerase III alpha, 7156

N. diseases: 52; N. variants: 9
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376902371
rs376902371
Entrez Id: 7156
Gene Symbol: TOP3A
TOP3A
CUI: C4748184
Disease:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation UNIPROT Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. 29290614 2018