Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 |