×
Entrez Id:
204
Gene Symbol:
AK2
AK2
0.750
Biomarker
disease
BEFREE
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation.
31673062
2019
×
Entrez Id:
204
Gene Symbol:
AK2
AK2
0.750
GeneticVariation
disease
CLINVAR
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.
28331055
2017
×
Entrez Id:
204
Gene Symbol:
AK2
AK2
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
×
Entrez Id:
204
Gene Symbol:
AK2
AK2
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
×
Entrez Id:
204
Gene Symbol:
AK2
AK2
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
×
Entrez Id:
204
Gene Symbol:
AK2
AK2
0.750
GeneticVariation
disease
CLINVAR
Here we identify biallelic mutations in AK2 (adenylate kinase 2 ) in seven individuals affected with reticular dysgenesis .
19043416
2009
×
Entrez Id:
204
Gene Symbol:
AK2
AK2
0.750
GeneticVariation
disease
UNIPROT
Here we identify biallelic mutations in AK2 (adenylate kinase 2 ) in seven individuals affected with reticular dysgenesis .
19043416
2009
×
Entrez Id:
204
Gene Symbol:
AK2
AK2
0.750
GermlineCausalMutation
disease
ORPHANET
Here we identify biallelic mutations in AK2 (adenylate kinase 2 ) in seven individuals affected with reticular dysgenesis .
19043416
2009
×
Entrez Id:
204
Gene Symbol:
AK2
AK2
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
×
Entrez Id:
204
Gene Symbol:
AK2
AK2
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
×
Entrez Id:
204
Gene Symbol:
AK2
AK2
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
×
Entrez Id:
204
Gene Symbol:
AK2
AK2
0.750
GeneticVariation
disease
BEFREE
Here we identify biallelic mutations in AK2 (adenylate kinase 2 ) in seven individuals affected with reticular dysgenesis .
19043416
2009
×
Entrez Id:
204
Gene Symbol:
AK2
AK2
0.750
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
204
Gene Symbol:
AK2
AK2
0.750
Biomarker
disease
CTD_human
×
Entrez Id:
204
Gene Symbol:
AK2
AK2
0.750
CausalMutation
disease
CLINVAR