AK2, adenylate kinase 2, 204

N. diseases: 54; N. variants: 9
Disease: Omenn Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.300 Biomarker disease CTD_human Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. 19043417 2009
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.300 Biomarker disease CTD_human Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. 19043416 2009