Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2382817
rs2382817
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0010346
Disease:
Crohn Disease 		A 0.700 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
dbSNP: rs2382817
rs2382817
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0009324
Disease:
Ulcerative Colitis 		A 0.700 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
dbSNP: rs2292553
rs2292553
Entrez Id: 25953;64114;102465256
Gene Symbol: PNKD;TMBIM1;MIR6513
PNKD;TMBIM1;MIR6513
CUI: C0242216
Disease:
Biliary calculi 		0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis yields 20 loci associated with gallstone disease. 30504769 2018
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0007102
Disease:
Malignant tumor of colon 		A 0.700 GeneticVariation GWASCAT Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. 28960316 2018
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C2677123
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		A 0.700 GeneticVariation GWASCAT Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. 28960316 2018
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C3554460
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		A 0.700 GeneticVariation GWASCAT Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. 28960316 2018
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0346629
Disease:
Malignant neoplasm of large intestine 		A 0.700 GeneticVariation GWASCAT Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. 28960316 2018
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		A 0.700 GeneticVariation GWASCAT Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. 28960316 2018
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0009404
Disease:
Colorectal Neoplasms 		A 0.700 GeneticVariation GWASCAT Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. 28960316 2018
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C1319315
Disease:
Adenocarcinoma of large intestine 		A 0.700 GeneticVariation GWASCAT Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. 28960316 2018
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		A 0.700 GeneticVariation GWASCAT Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. 28960316 2018
dbSNP: rs2382817
rs2382817
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		0.810 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
dbSNP: rs2382817
rs2382817
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		A 0.810 GeneticVariation GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
dbSNP: rs2382817
rs2382817
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		A 0.810 GeneticVariation GWASDB Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
dbSNP: rs2382817
rs2382817
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		0.810 GeneticVariation BEFREE Intriguingly this susceptibility single-nucleotide polymorphism (SNP) is in strong linkage disequilibrium (r<sup>2</sup> = 0.90, D' = 0.96) with the previously discovered GWAS SNP rs2382817 for inflammatory bowel disease (IBD). 27005424 2016
dbSNP: rs2271543
rs2271543
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0007222
Disease:
Cardiovascular Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2292553
rs2292553
Entrez Id: 25953;64114;102465256
Gene Symbol: PNKD;TMBIM1;MIR6513
PNKD;TMBIM1;MIR6513
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2382818
rs2382818
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0009402
Disease:
Colorectal Carcinoma 		A 0.730 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119 2019
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C2677123
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		A 0.700 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119 2019
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0007102
Disease:
Malignant tumor of colon 		A 0.700 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119 2019
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0346629
Disease:
Malignant neoplasm of large intestine 		A 0.700 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119 2019
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0009404
Disease:
Colorectal Neoplasms 		A 0.700 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119 2019
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		A 0.700 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119 2019
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C3554460
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		A 0.700 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119 2019