Gene: PNKD

Alternate names for this Gene: BRP17|DYT8|FKSG19|FPD1|KIPP1184|MR-1|MR-1S|MR1|PDC|PKND1|PNKD1|R1|TAHCCP2

Gene Summary: This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: PNKD metallo-beta-lactamase domain containing

Type of Gene: protein-coding

Gene: TMBIM1

Alternate names for this Gene: LFG3|MST100|MSTP100|PP1201|RECS1

Gene Summary:

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: transmembrane BAX inhibitor motif containing 1

Type of Gene: protein-coding

rs2271543 in PNKD;TMBIM1 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2382817 in PNKD;TMBIM1 gene and Crohn Disease PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs2382817 in PNKD;TMBIM1 gene and Inflammatory Bowel Diseases PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

rs4674280 in PNKD;TMBIM1 gene and RDW - Red blood cell distribution width result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs4674280 in PNKD;TMBIM1 gene and Red cell distribution width determination PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2382818 in PNKD;TMBIM1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2382817 in PNKD;TMBIM1 gene and Ulcerative Colitis PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.