SLC15A2, solute carrier family 15 member 2, 6565

N. diseases: 13; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.300 Biomarker disease CTD_human c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma. 27602772 2016
CUI: C0025202
Disease: melanoma
melanoma 		0.300 Biomarker disease CTD_human Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. 22842228 2012
CUI: C0013595
Disease: Eczema
Eczema 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation phenotype GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation phenotype GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		0.100 GeneticVariation phenotype GWASCAT Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. 29083406 2017
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.100 GeneticVariation disease GWASCAT Genetic overlap between multiple sclerosis and several cardiovascular disease risk factors. 26920376 2016
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic overlap between multiple sclerosis and several cardiovascular disease risk factors. 26920376 2016
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.100 GeneticVariation disease GWASCAT Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. 21833088 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.100 GeneticVariation disease GWASDB Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. 21833088 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE In cell culture, PHT1 expression was comparable to expression in tumor tissue, PHT2 exhibited a slightly reduced expression, and PEPT2 expression was reduced to normal brain tissue levels. 31073693 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 Biomarker group BEFREE The therapeutic value of PEPT2 inhibitors in preventing porphyria-associated kidney disease warrants investigation. 28031405 2017
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		0.010 Biomarker group BEFREE The therapeutic value of PEPT2 inhibitors in preventing porphyria-associated kidney disease warrants investigation. 28031405 2017
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.010 Biomarker disease BEFREE We analyzed data from 122 individuals with AIP who were followed from 2003 to 2013 and genotyped for <i>PEPT2</i> At last follow-up, carriers of the <i>PEPT2*1*1</i> genotype (higher affinity variant) exhibited worse renal function than carriers of the lower affinity variants <i>PEPT2*1/*2</i> and <i>PEPT2*2/*2</i> (mean±SD eGFR: 54.4±19.1, 66.6±23.8, and 78.1±19.9 ml/min per 1.73 m<sup>2</sup>, respectively). 28031405 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 GeneticVariation disease BEFREE SLC15A2 genomic variation is associated with the extraordinary response of sorafenib treatment: whole-genome analysis in patients with hepatocellular carcinoma. 25965825 2015
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.010 AlteredExpression disease LHGDN [Expression, localization and functional aspects of the peptide transporter PEPT2 in the normal respiratory tract and in cystic fibrosis]. 12579467 2003