PTN, pleiotrophin, 5764

N. diseases: 164; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1431093
rs1431093
Entrez Id: 5764
Gene Symbol: PTN
PTN
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs322329
rs322329
Entrez Id: 5764
Gene Symbol: PTN
PTN
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs321198
rs321198
Entrez Id: 5764
Gene Symbol: PTN
PTN
CUI: C0037054
Disease:
Sickle Cell Trait 		0.010 GeneticVariation BEFREE Individuals with sickle cell trait had significantly lower antibody levels to all blood-stage antigens, and recessive homozygotes for CD36 (rs321198) had significantly lower anti-malarial antibody levels to MSP2. 26314886 2015
dbSNP: rs919581
rs919581
Entrez Id: 5764
Gene Symbol: PTN
PTN
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.010 GeneticVariation BEFREE Association with SLE was confirmed for several genes, including those for the transmembrane receptor CD44 (CD44 [rs507230]; P = 3.98 × 10⁻¹²), the cytokine pleiotrophin (PTN [rs919581]; P = 5.38 × 10⁻⁴), the heat-shock protein DnaJ (DNAJA1 [rs10971259]; P = 6.31 × 10⁻³), and the nuclear import protein karyopherin α1 (KPNA [rs6810306]; P = 4.91 × 10⁻²). 21437871 2011