Gene: KBTBD4

Alternate names for this Gene: BKLHD4|HSPC252

Gene Summary:

Gene is located in Chromosome: 11

Location in Chromosome : 11p11.2

Description of this Gene: kelch repeat and BTB domain containing 4

Type of Gene: protein-coding

Gene: NDUFS3

Alternate names for this Gene: CI-30|MC1DN8

Gene Summary: This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.

Gene is located in Chromosome: 11

Location in Chromosome : 11p11.2

Description of this Gene: NADH:ubiquinone oxidoreductase core subunit S3

Type of Gene: protein-coding

rs2280231 in KBTBD4;NDUFS3 gene and Fasting blood glucose measurement PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs2280231 in KBTBD4;NDUFS3 gene and Fasting blood sugar result PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs144915398 in KBTBD4;NDUFS3 gene and Venous Thromboembolism PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

rs144915398 in KBTBD4;NDUFS3 gene and Venous Thrombosis PMID 22675575 2012 Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis.