DGUOK, deoxyguanosine kinase, 1716

N. diseases: 112; N. variants: 19
Disease: Icterus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022346
Disease: Icterus
Icterus 		0.110 GeneticVariation phenotype BEFREE A pathogenic heterozygous frameshift deletion mutation in DGUOK gene was identified in parents of two affected patients (c.706-707 + 2 del: p.k236 fs) presenting with jaundice, impaired fetal growth, low-birth weight, and failure to thrive who died at the age of 3 and 6 months in family I. 31664948 2019
CUI: C0022346
Disease: Icterus
Icterus 		0.110 Biomarker phenotype HPO