Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Insulin-Dependent
0.360 GeneticVariation disease BEFREE A novel 3' untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus syndrome. 30821020 2019
Diabetes Mellitus, Insulin-Dependent
0.360 GeneticVariation disease BEFREE Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is associated with recessive mutations in <i>SLC29A3</i>, encoding the equilibrative nucleoside transporter hENT3 expressed in mitochondria, causing PHID and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy-plus syndrome. 29079714 2017
Diabetes Mellitus, Insulin-Dependent
0.360 GeneticVariation disease BEFREE An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis. 22989030 2013
Diabetes Mellitus, Insulin-Dependent
0.360 GeneticVariation disease BEFREE This report describes an insulin-dependent diabetes patient with a syndromic presentation in whom a homozygous SLC29A3 mutation was identified. 23623699 2013
Diabetes Mellitus, Insulin-Dependent
0.360 Biomarker disease BEFREE With the exception of insulin-dependent diabetes and mild finger and toe contractures in one sibling, the two patients with nasal granulomatous histiocytosis studied here displayed none of the many SLC29A3-associated phenotypes. 22238637 2012
Diabetes Mellitus, Insulin-Dependent
0.360 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
Diabetes Mellitus, Insulin-Dependent
0.360 GeneticVariation disease BEFREE In summary, inactivating mutations in SLC29A3 cause a syndromic form of insulin-dependent diabetes in humans and in Drosophila profoundly affect cell size/number through interactions with the insulin signaling pathway. 19336477 2009
Diabetes Mellitus, Insulin-Dependent
0.360 Biomarker disease CTD_human In summary, inactivating mutations in SLC29A3 cause a syndromic form of insulin-dependent diabetes in humans and in Drosophila profoundly affect cell size/number through interactions with the insulin signaling pathway. 19336477 2009