DGUOK, deoxyguanosine kinase, 1716

N. diseases: 112; N. variants: 19
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762550967
rs762550967
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310733
Disease:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 		0.800 GeneticVariation UNIPROT Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. 23043144 2012
dbSNP: rs762550967
rs762550967
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310733
Disease:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 		A 0.800 CausalMutation CLINVAR