DGUOK, deoxyguanosine kinase, 1716

N. diseases: 112; N. variants: 19
Disease: Rotary Nystagmus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		0.010 GeneticVariation disease BEFREE Common clinical findings were progressive cholestatic liver failure, hypoglycemia, hypotonia and rotatory nystagmus in our DGUOK deficiency patients. 28493820 2017