| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.530 | Biomarker | disease | RGD | A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome. | 30404003 | 2018 | ||||
|
0.530 | Biomarker | disease | CTD_human | The Deoxynucleoside Triphosphate Triphosphohydrolase Activity of SAMHD1 Protein Contributes to the Mitochondrial DNA Depletion Associated with Genetic Deficiency of Deoxyguanosine Kinase. | 26342080 | 2015 | ||||
|
0.530 | GeneticVariation | disease | BEFREE | Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. | 23141463 | 2012 | ||||
|
0.530 | GeneticVariation | disease | BEFREE | The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. | 19394258 | 2009 | ||||
|
0.530 | GeneticVariation | disease | BEFREE | Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. | 15887277 | 2005 |