AK2, adenylate kinase 2, 204

N. diseases: 54; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086395
Disease: Hearing Loss, Extreme
Hearing Loss, Extreme
0.300 Biomarker phenotype CTD_human Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. 19043416 2009