COQ8B, coenzyme Q8B, 79934

N. diseases: 23; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28493229
rs28493229
Entrez Id: 79934;80271
Gene Symbol: COQ8B;ITPKC
COQ8B;ITPKC
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome 		0.890 GeneticVariation BEFREE SNP rs28493229 in ITPKC was associated with KD and coronary artery complications. 29214786 2018
dbSNP: rs28493229
rs28493229
Entrez Id: 79934;80271
Gene Symbol: COQ8B;ITPKC
COQ8B;ITPKC
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome 		0.890 GeneticVariation BEFREE Functional single-nucleotide polymorphisms (SNPs) in inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) (rs28493229) and caspase-3 (CASP3) (rs113420705; formerly rs72689236) are associated with susceptibility to Kawasaki's disease (KD). 21987091 2013
dbSNP: rs28493229
rs28493229
Entrez Id: 79934;80271
Gene Symbol: COQ8B;ITPKC
COQ8B;ITPKC
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome 		0.890 GeneticVariation BEFREE The meta-analyses first revealed significant risk for CALs in KD patients carrying risk allele of rs11340705, and the association of rs28493229 with KD was not observed in the Han Chinese. 23456091 2013
dbSNP: rs28493229
rs28493229
Entrez Id: 79934;80271
Gene Symbol: COQ8B;ITPKC
COQ8B;ITPKC
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome 		0.890 GeneticVariation BEFREE The inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene rs28493229 was recently found to be associated with the risk for KD in the Japanese population, suggesting that the ITPKC gene may contribute to KD susceptibility. 22361738 2012
dbSNP: rs28493229
rs28493229
Entrez Id: 79934;80271
Gene Symbol: COQ8B;ITPKC
COQ8B;ITPKC
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome 		0.890 GeneticVariation BEFREE Recently, a single nucleotide polymorphism (SNP) of the inositol 1,4,5-triphosphate kinase C (ITPKC), rs28493229, was found to passively confer susceptibility for Kawasaki syndrome (KS) and subsequent coronary arterial lesions. 22498790 2012
dbSNP: rs28493229
rs28493229
Entrez Id: 79934;80271
Gene Symbol: COQ8B;ITPKC
COQ8B;ITPKC
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome 		0.890 GeneticVariation BEFREE This meta-analysis reveals that the functional polymorphism rs28493229 in ITPKC significantly contributes to the risk of KD. 23065250 2012
dbSNP: rs28493229
rs28493229
Entrez Id: 79934;80271
Gene Symbol: COQ8B;ITPKC
COQ8B;ITPKC
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome 		0.890 GeneticVariation BEFREE in a cohort from a population with the world's third highest incidence of KD, we demonstrated that the C-allele of ITPKC SNP rs28493229 is associated with KD susceptibility and BCG scar reactivation during the acute phase, although its frequency is lower than that in the Japanese cohort (22.6%), suggesting this SNP contributes to KD susceptibility through induced hyperimmune function reflected in the BCG reactivation. 20805785 2011
dbSNP: rs28493229
rs28493229
Entrez Id: 79934;80271
Gene Symbol: COQ8B;ITPKC
COQ8B;ITPKC
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome 		0.890 GeneticVariation GWASCAT Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. 22081228 2011
dbSNP: rs28493229
rs28493229
Entrez Id: 79934;80271
Gene Symbol: COQ8B;ITPKC
COQ8B;ITPKC
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome 		0.890 GeneticVariation BEFREE Taken together, our results indicated that C-allele of ITPKC SNP rs284</span>93229 is associated with the susceptibility and aneurysm formation in KD patients in a Taiwanese population. 21533171 2011
dbSNP: rs28493229
rs28493229
Entrez Id: 79934;80271
Gene Symbol: COQ8B;ITPKC
COQ8B;ITPKC
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome 		0.890 GeneticVariation GWASDB Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. 22081228 2011
dbSNP: rs28493229
rs28493229
Entrez Id: 79934;80271
Gene Symbol: COQ8B;ITPKC
COQ8B;ITPKC
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome 		0.890 GeneticVariation BEFREE In conclusion, we did not find a statistically significant association between the ITPKC gene SNP rs28493229 and KD or CALs in Taiwanese children. 20045869 2010
dbSNP: rs369573693
rs369573693
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. 25967120 2016
dbSNP: rs398122978
rs398122978
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. 25967120 2016
dbSNP: rs398122979
rs398122979
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. 25967120 2016
dbSNP: rs398122981
rs398122981
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. 25967120 2016
dbSNP: rs1057519347
rs1057519347
Entrez Id: 9253;79934
Gene Symbol: NUMBL;COQ8B
NUMBL;COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		T 0.800 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs369573693
rs369573693
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		A 0.800 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs369573693
rs369573693
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122978
rs398122978
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122978
rs398122978
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		A 0.800 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122979
rs398122979
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		C 0.800 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122979
rs398122979
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122981
rs398122981
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122981
rs398122981
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		A 0.800 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs1057519347
rs1057519347
Entrez Id: 9253;79934
Gene Symbol: NUMBL;COQ8B
NUMBL;COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT