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: 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
dbSNP: rs398122978
rs398122978
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9
A 0.800 GeneticVariation CLINVAR
dbSNP: rs1057519345
rs1057519345
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9
T 0.700 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs1057519346
rs1057519346
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9
TGTC 0.700 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122980
rs398122980
Entrez Id: 9253;79934
Gene Symbol: NUMBL;COQ8B
NUMBL;COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9
A 0.700 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122982
rs398122982
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9
AT 0.700 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122983
rs398122983
Entrez Id: 9253;79934
Gene Symbol: NUMBL;COQ8B
NUMBL;COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9
A 0.700 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs764587648
rs764587648
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9
C 0.700 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013