Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.310 Biomarker disease BEFREE These results lead to the intriguing possibility that association between ALDH16A1 and HPRT1 may be required for optimal HPRT activity with disruption of this interaction possibly contributing to the hyperuricemia seen in ALDH16A1*2 carriers. 23348497 2013
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.310 Biomarker disease CTD_human These results lead to the intriguing possibility that association between ALDH16A1 and HPRT1 may be required for optimal HPRT activity with disruption of this interaction possibly contributing to the hyperuricemia seen in ALDH16A1*2 carriers. 23348497 2013
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related
0.300 Biomarker disease CTD_human ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein-protein interactions with HPRT1. 23348497 2013
CUI: C0018099
Disease: Gout
Gout
0.300 Biomarker disease CTD_human Identification of low-frequency variants associated with gout and serum uric acid levels. 21983786 2011
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C1855346
Disease: MAST SYNDROME
MAST SYNDROME
0.010 Biomarker disease BEFREE Further studies of the function of ALDH16A1 and the role of the maspardin-ALDH16A1 interaction in neuronal cells may clarify the cellular pathogenesis of Mast syndrome. 19184135 2009