GPN1, GPN-loop GTPase 1, 11321

N. diseases: 20; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.410 GeneticVariation group GWASCAT Oral cancer was associated with two new regions, 2p23.3 (rs6547741, GPN1) and 9q34.12 (rs928674, LAMC3), and with known cancer-related loci-9p21.3 (rs8181047, CDKN2B-AS1) and 5p15.33 (rs10462706, CLPTM1L). 27749845 2016
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.410 GeneticVariation group BEFREE Oral cancer was associated with two new regions, 2p23.3 (rs6547741, GPN1) and 9q34.12 (rs928674, LAMC3), and with known cancer-related loci-9p21.3 (rs8181047, CDKN2B-AS1) and 5p15.33 (rs10462706, CLPTM1L). 27749845 2016
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.410 Biomarker group CTD_human Oral cancer was associated with two new regions, 2p23.3 (rs6547741, GPN1) and 9q34.12 (rs928674, LAMC3), and with known cancer-related loci-9p21.3 (rs8181047, CDKN2B-AS1) and 5p15.33 (rs10462706, CLPTM1L). 27749845 2016
CUI: C0026640
Disease: Mouth Neoplasms
Mouth Neoplasms 		0.300 Biomarker group CTD_human Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer. 27749845 2016
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0153368
Disease: Malignant neoplasm of floor of mouth
Malignant neoplasm of floor of mouth 		0.100 GeneticVariation disease GWASCAT Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer. 27749845 2016
CUI: C0153369
Disease: Malignant neoplasm of anterior portion of floor of mouth
Malignant neoplasm of anterior portion of floor of mouth 		0.100 GeneticVariation disease GWASCAT Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer. 27749845 2016
CUI: C0153380
Disease: Malignant neoplasm of other specified parts of mouth
Malignant neoplasm of other specified parts of mouth 		0.100 GeneticVariation disease GWASCAT Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer. 27749845 2016
CUI: C0153407
Disease: Malignant neoplasm of other sites within the lip and oral cavity
Malignant neoplasm of other sites within the lip and oral cavity 		0.100 GeneticVariation disease GWASCAT Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer. 27749845 2016
CUI: C0496758
Disease: Malignant neoplasm of lateral floor of mouth
Malignant neoplasm of lateral floor of mouth 		0.100 GeneticVariation disease GWASCAT Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer. 27749845 2016
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.100 GeneticVariation phenotype GWASCAT Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. 25625282 2015
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.100 GeneticVariation disease GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
CUI: C0018099
Disease: Gout
Gout 		0.100 GeneticVariation disease GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.100 GeneticVariation disease GWASDB Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. 21768215 2011
CUI: C0018099
Disease: Gout
Gout 		0.100 GeneticVariation disease GWASDB Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. 21768215 2011
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASDB A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. 21386085 2011
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. 21386085 2011
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.100 GeneticVariation disease GWASCAT A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. 21386085 2011
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
CUI: C0019269
Disease: Hermaphroditism
Hermaphroditism 		0.010 Biomarker disease BEFREE HS, sulfated in position 3 by the HS modification enzyme HST-3.1<i>/</i>HS 3-<i>O</i>-sulfotransferase and attached to the HS proteoglycan glypicans LON-2/glypican and GPN-1/glypican, functions cell-autonomously and nonautonomously for response to hermaphrodite contact during mating. 29559501 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation group BEFREE The Gpn3 Q279* cancer-associated mutant inhibits Gpn1 nuclear export and is deficient in RNA polymerase II nuclear targeting. 28940195 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 GeneticVariation group BEFREE The Gpn3 Q279* cancer-associated mutant inhibits Gpn1 nuclear export and is deficient in RNA polymerase II nuclear targeting. 28940195 2017
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.010 GeneticVariation disease BEFREE Oral cancer was associated with two new regions, 2p23.3 (rs6547741, GPN1) and 9q34.12 (rs928674, LAMC3), and with known cancer-related loci-9p21.3 (rs8181047, CDKN2B-AS1) and 5p15.33 (rs10462706, CLPTM1L). 27749845 2016