Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147210405
rs147210405
Entrez Id: 10295
Gene Symbol: BCKDK
BCKDK
CUI: C3554078
Disease:
BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
C 0.800 CausalMutation CLINVAR
dbSNP: rs147210405
rs147210405
Entrez Id: 10295
Gene Symbol: BCKDK
BCKDK
CUI: C3554078
Disease:
BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
0.800 GeneticVariation UNIPROT
dbSNP: rs14235
rs14235
Entrez Id: 10295
Gene Symbol: BCKDK
BCKDK
CUI: C0030567
Disease:
Parkinson Disease
0.720 GeneticVariation BEFREE Our study is the first to demonstrate that ACMSD/TMEM163 rs6430538, GPNMB rs199347 and BCKDK /STX1B rs14235 do not confer a significant risk for sporadic PD in mainland China. 30880162 2019
dbSNP: rs14235
rs14235
Entrez Id: 10295
Gene Symbol: BCKDK
BCKDK
CUI: C0030567
Disease:
Parkinson Disease
0.720 GeneticVariation BEFREE Herein, we investigated the effect of top three PD-associated genetic variants related to amino acid catabolism in Caucasians listed on the top risk loci identified by meta-analysis of genome-wide association studies in PDGene database, including aminocarboxymuconate-semialdehyde decarboxylase- (<i>ACMSD-</i>) transmembrane protein 163 (<i>TMEM163</i>) rs6430538, methylcrotonyl-CoA carboxylase 1 (<i>MCCC1</i>) rs12637471, and branched-chain ketoacid dehydrogenase kinase- (<i>BCKDK-</i>) syntaxin 1B (<i>STX1B</i>) rs14235, by genotyping 599 Taiwanese patients with PD and 598 age-matched control subjects. 30719275 2019
dbSNP: rs14235
rs14235
Entrez Id: 10295
Gene Symbol: BCKDK
BCKDK
CUI: C0030567
Disease:
Parkinson Disease
A 0.720 GeneticVariation GWASCAT A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. 28892059 2017
dbSNP: rs14235
rs14235
Entrez Id: 10295
Gene Symbol: BCKDK
BCKDK
CUI: C0030567
Disease:
Parkinson Disease
A 0.720 GeneticVariation GWASCAT Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. 25064009 2014
dbSNP: rs889555
rs889555
Entrez Id: 10295
Gene Symbol: BCKDK
BCKDK
CUI: C0002395
Disease:
Alzheimer's Disease
0.700 GeneticVariation GWASCAT GWAS on family history of Alzheimer's disease. 29777097 2018
dbSNP: rs369521689
rs369521689
Entrez Id: 10295
Gene Symbol: BCKDK
BCKDK
CUI: C3554078
Disease:
BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
G 0.700 GeneticVariation CLINVAR
dbSNP: rs397514573
rs397514573
Entrez Id: 10295
Gene Symbol: BCKDK
BCKDK
CUI: C3554078
Disease:
BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
T 0.700 CausalMutation CLINVAR