SLC29A3, solute carrier family 29 member 3, 55315

N. diseases: 123; N. variants: 21
Disease: Brittle diabetes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342302
Disease: Brittle diabetes
Brittle diabetes 		0.300 Biomarker disease CTD_human Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. 20140240 2010
CUI: C0342302
Disease: Brittle diabetes
Brittle diabetes 		0.300 Biomarker disease CTD_human SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. 19336477 2009