Gene: ADAMTS13

Alternate names for this Gene: ADAM-TS13|ADAMTS-13|C9orf8|VWFCP|vWF-CP

Gene Summary: This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.2

Description of this Gene: ADAM metallopeptidase with thrombospondin type 1 motif 13

Type of Gene: protein-coding

Gene: CACFD1

Alternate names for this Gene: C9orf7|D9S2135|FLOWER

Gene Summary:

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.2

Description of this Gene: calcium channel flower domain containing 1

Type of Gene: protein-coding

rs4962153 in ADAMTS13;CACFD1 gene and Alkaline phosphatase measurement PMID 18940312 2008 Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

rs4962153 in ADAMTS13;CACFD1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs4962153 in ADAMTS13;CACFD1 gene and Finding of liver enzyme levels PMID 18940312 2008 Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

rs4962153 in ADAMTS13;CACFD1 gene and Homocysteine measurement PMID 28495826 2017 Genetic Drivers of von Willebrand Factor Levels in an Ischemic Stroke Population and Association With Risk for Recurrent Stroke.

rs4962153 in ADAMTS13;CACFD1 gene and Ischemic stroke PMID 28495826 2017 Genetic Drivers of von Willebrand Factor Levels in an Ischemic Stroke Population and Association With Risk for Recurrent Stroke.

rs4962153 in ADAMTS13;CACFD1 gene and Measurement of liver enzyme PMID 18940312 2008 Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

rs4962153 in ADAMTS13;CACFD1 gene and Venous Thromboembolism PMID 21980494 2011 Genetics of venous thrombosis: insights from a new genome wide association study.

rs4962153 in ADAMTS13;CACFD1 gene and von Willebrand's factor (lab test) PMID 28495826 2017 Genetic Drivers of von Willebrand Factor Levels in an Ischemic Stroke Population and Association With Risk for Recurrent Stroke.