SLC15A2, solute carrier family 15 member 2, 6565

N. diseases: 13; N. variants: 9
Disease: Acute intermittent porphyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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