PKN2, protein kinase N2, 5586

N. diseases: 29; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10801682
rs10801682
Entrez Id: 5586
Gene Symbol: PKN2
PKN2
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs305221
rs305221
Entrez Id: 5586
Gene Symbol: PKN2
PKN2
CUI: C0005823
Disease:
Blood Pressure 		0.700 GeneticVariation GWASCAT Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis. 30940143 2019
dbSNP: rs305221
rs305221
Entrez Id: 5586
Gene Symbol: PKN2
PKN2
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		0.700 GeneticVariation GWASCAT Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis. 30940143 2019
dbSNP: rs35424856
rs35424856
Entrez Id: 5586
Gene Symbol: PKN2
PKN2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs786914
rs786914
Entrez Id: 5586
Gene Symbol: PKN2
PKN2
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs786906
rs786906
Entrez Id: 5586
Gene Symbol: PKN2
PKN2
CUI: C0040420
Disease:
Tonometry 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
dbSNP: rs786919
rs786919
Entrez Id: 5586
Gene Symbol: PKN2
PKN2
CUI: C0871470
Disease:
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs786906
rs786906
Entrez Id: 5586
Gene Symbol: PKN2
PKN2
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. 27618447 2016
dbSNP: rs305217
rs305217
Entrez Id: 5586
Gene Symbol: PKN2
PKN2
CUI: C0004364
Disease:
Autoimmune Diseases 		0.010 GeneticVariation BEFREE Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs1517440), YTHDF3 (rs12115114), ANKFN1 (rs17758761) and PTPRM (rs4798571), which did not reach the threshold of significance in a follow-up of the first genome-wide association study (GWAS) conducted in multiple sclerosis; TMEM39A (rs1132200), which appeared as a newly identified susceptibility gene in the same study; a gene previously reaching GWAS significance in Italy, CBLB (rs9657904); IL12B (rs6887695, rs10045431), a susceptibility gene shared by diverse autoimmune diseases and, finally, another gene showing inconclusive association with multiple sclerosis, CNR1 (rs1049353). 22194214 2012
dbSNP: rs305217
rs305217
Entrez Id: 5586
Gene Symbol: PKN2
PKN2
CUI: C0026769
Disease:
Multiple Sclerosis 		0.010 GeneticVariation BEFREE Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs1517440), YTHDF3 (rs12115114), ANKFN1 (rs17758761) and PTPRM (rs4798571), which did not reach the threshold of significance in a follow-up of the first genome-wide association study (GWAS) conducted in multiple sclerosis; TMEM39A (rs1132200), which appeared as a newly identified susceptibility gene in the same study; a gene previously reaching GWAS significance in Italy, CBLB (rs9657904); IL12B (rs6887695, rs10045431), a susceptibility gene shared by diverse autoimmune diseases and, finally, another gene showing inconclusive association with multiple sclerosis, CNR1 (rs1049353). 22194214 2012