Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268654
Disease: Iminoglycinuria
Iminoglycinuria
0.600 Biomarker disease CTD_human Variants at three of these loci have previously been linked with important clinical outcomes: SLC7A9 is a risk locus for chronic kidney disease, NAT2 for coronary artery disease and genotype-dependent response to drug toxicity, and SLC6A20 for iminoglycinuria. 21572414 2011
CUI: C0268654
Disease: Iminoglycinuria
Iminoglycinuria
0.600 GeneticVariation disease ORPHANET Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. 19033659 2008
CUI: C0268654
Disease: Iminoglycinuria
Iminoglycinuria
0.600 Biomarker disease GENOMICS_ENGLAND Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. 19033659 2008