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: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 Biomarker disease BEFREE Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation. 31673062 2019
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 GeneticVariation disease CLINVAR Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome. 28331055 2017
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 Biomarker disease BEFREE The requirement for AK2 for UPR induction may explain the pathogenesis of the profound hematopoietic defects of reticular dysgenesis, a disease associated with mutations of the AK2 gene in humans. 20876536 2011
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 GeneticVariation disease BEFREE However, rare patients with RD and no mutations in AK2 exist, suggesting that mutations in other genes may also cause RD. 19896777 2010
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 Biomarker disease GENOMICS_ENGLAND Here we show that the gene encoding the mitochondrial energy metabolism enzyme adenylate kinase 2 (AK2) is mutated in individuals with reticular dysgenesis. 19043417 2009
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 GeneticVariation disease CLINVAR Here we identify biallelic mutations in AK2 (adenylate kinase 2) in seven individuals affected with reticular dysgenesis. 19043416 2009
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 Biomarker disease GENOMICS_ENGLAND Here we show that the gene encoding the mitochondrial energy metabolism enzyme adenylate kinase 2 (AK2) is mutated in individuals with reticular dysgenesis. 19043417 2009
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 GeneticVariation disease UNIPROT Here we identify biallelic mutations in AK2 (adenylate kinase 2) in seven individuals affected with reticular dysgenesis. 19043416 2009
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 GermlineCausalMutation disease ORPHANET Here we identify biallelic mutations in AK2 (adenylate kinase 2) in seven individuals affected with reticular dysgenesis. 19043416 2009
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 Biomarker disease GENOMICS_ENGLAND Here we identify biallelic mutations in AK2 (adenylate kinase 2) in seven individuals affected with reticular dysgenesis. 19043416 2009
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 GeneticVariation disease BEFREE Here we show that the gene encoding the mitochondrial energy metabolism enzyme adenylate kinase 2 (AK2) is mutated in individuals with reticular dysgenesis. 19043417 2009
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 GeneticVariation disease UNIPROT Here we show that the gene encoding the mitochondrial energy metabolism enzyme adenylate kinase 2 (AK2) is mutated in individuals with reticular dysgenesis. 19043417 2009
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 GeneticVariation disease BEFREE Here we identify biallelic mutations in AK2 (adenylate kinase 2) in seven individuals affected with reticular dysgenesis. 19043416 2009
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 Biomarker disease CTD_human
CUI: C0272167
Disease: Reticular dysgenesis
Reticular dysgenesis 		0.750 CausalMutation disease CLINVAR
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.400 Biomarker disease CTD_human Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. 19043416 2009
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.400 Biomarker disease CTD_human Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. 19043417 2009
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.400 Biomarker disease HPO
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
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.300 Biomarker disease CTD_human Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. 19043416 2009
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
CUI: C0242583
Disease: Bare Lymphocyte Syndrome
Bare Lymphocyte 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: C0242583
Disease: Bare Lymphocyte Syndrome
Bare Lymphocyte Syndrome 		0.300 Biomarker disease CTD_human Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. 19043416 2009