MUC1, mucin 1, cell surface associated, 4582

N. diseases: 594; N. variants: 18
Disease: Hyperuricemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.120 Biomarker disease BEFREE A fixed dose combination of lesinurad and allopurinol has been recently approved by USFDA and EMA for treatment of gout-associated hyperuricemia in patients who have not achieved target serum uric acid levels with allopurinol alone. 30870504 2019
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.120 GeneticVariation disease BEFREE Here, we describe new missense mutations in three families with MCKD/FJHN and demonstrate allelism with a glomerulocystic kidney disease (GCKD) variant, showing association of cyst dilatation and collapse of glomeruli with some clinical features similar to MCKD/FJHN as hyperuricemia and impairment of urine concentrating ability. 14570709 2003
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.120 Biomarker disease HPO