SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032617
Disease: Polyuria
Polyuria
0.010 Biomarker phenotype BEFREE Inhibition of both cystathionine-γ-lyase (CSE) and cystathionine-β-synthase (CBS), 2 major enzymes for endogenous H<sub>2</sub>S production, with propargylglycine (PPG) and amino-oxyacetate (AOAA), respectively, caused increased urine output and reduced urine osmolality in mice that was associated with decreased expression of aquaporin (AQP)-2 in the renal inner medulla. 30036087 2019