ADK, adenosine kinase, 132

N. diseases: 102; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514452
rs397514452
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C3280381
Disease:
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		0.800 GeneticVariation UNIPROT Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. 21963049 2011
dbSNP: rs397514453
rs397514453
Entrez Id: 132;102723439
Gene Symbol: ADK;LOC102723439
ADK;LOC102723439
CUI: C3280381
Disease:
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		0.800 GeneticVariation UNIPROT Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. 21963049 2011
dbSNP: rs397514454
rs397514454
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C3280381
Disease:
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		0.800 GeneticVariation UNIPROT Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. 21963049 2011
dbSNP: rs397514452
rs397514452
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C3280381
Disease:
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397514453
rs397514453
Entrez Id: 132;102723439
Gene Symbol: ADK;LOC102723439
ADK;LOC102723439
CUI: C3280381
Disease:
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		C 0.800 CausalMutation CLINVAR
dbSNP: rs397514454
rs397514454
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C3280381
Disease:
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs10824134
rs10824134
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C0007222
Disease:
Cardiovascular Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10824211
rs10824211
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12098284
rs12098284
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs34868542
rs34868542
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs7079515
rs7079515
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs7079515
rs7079515
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs17747401
rs17747401
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C0848558
Disease:
Hypospadias 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify variants in developmental genes associated with hypospadias. 25108383 2014
dbSNP: rs397514452
rs397514452
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C4021780
Disease:
Abnormality of the liver 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397514452
rs397514452
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C4021765
Disease:
Morphological abnormality of the central nervous system 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397514452
rs397514452
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C0036572
Disease:
Seizures 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397514452
rs397514452
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C4022737
Disease:
Neurodevelopmental abnormality 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1417529866
rs1417529866
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C0268621
Disease:
Hepatic methionine adenosyltransferase deficiency 		0.010 GeneticVariation BEFREE Patient 3 was homozygous for a novel missense, c.427T>C (p.Cys143Arg), mutation in ADK, a known gene of adenosine kinase deficiency leading to hypermethioninemia. 30771478 2019
dbSNP: rs1417529866
rs1417529866
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C4048705
Disease:
Hypermethioninemia 		0.010 GeneticVariation BEFREE Patient 3 was homozygous for a novel missense, c.427T>C (p.Cys143Arg), mutation in ADK, a known gene of adenosine kinase deficiency leading to hypermethioninemia. 30771478 2019
dbSNP: rs10824095
rs10824095
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C0023530
Disease:
Leukopenia 		0.010 GeneticVariation BEFREE ADK (rs10824095) (P = 0.004, odds ratio [OR] = 6.220), SLC29A1 (rs747199) (P = 0.016, OR = 5.681), and TYMS (rs34743033) (P = 0.045, OR = 3.846) were associated with neutropenia. 26332308 2015
dbSNP: rs10824095
rs10824095
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C0027947
Disease:
Neutropenia 		0.010 GeneticVariation BEFREE ADK (rs10824095) (P = 0.004, odds ratio [OR] = 6.220), SLC29A1 (rs747199) (P = 0.016, OR = 5.681), and TYMS (rs34743033) (P = 0.045, OR = 3.846) were associated with neutropenia. 26332308 2015
dbSNP: rs11001109
rs11001109
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C0036572
Disease:
Seizures 		0.010 GeneticVariation BEFREE Comparing Kaplan-Meier curves, rs11001109 (ADK) rare allele homozygosity and rs9444348 (NT5E) heterozygosity were significantly associated with shorter time to first seizure and an increased seizure rate 3 years post-TBI. 26040919 2015