Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268108
Disease: Chronic gouty arthritis
Chronic gouty arthritis
0.010 GeneticVariation disease BEFREE Missense mutations in hypoxanthine phosphoribosyl transferase 1 (HPRT1) are associated with deficiencies such as Lesch-Nyhan disease and chronic gout, which have manifestations such as arthritis, neurodegeneration, and cognitive disorders. 30831305 2019