AK2, adenylate kinase 2, 204

N. diseases: 54; N. variants: 9
Disease: De Vaal's syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1282908
Disease: De Vaal's syndrome
De Vaal's syndrome 		0.300 GermlineCausalMutation disease ORPHANET Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. 19043416 2009