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: C0011053
Disease: Deafness
Deafness
0.310 Biomarker phenotype CTD_human Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. 19043416 2009
CUI: C0011053
Disease: Deafness
Deafness
0.310 GeneticVariation phenotype LHGDN Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. 19043416 2009