Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome. | 24894595 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. | 21888995 | 2012 |
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|
A | 0.800 | CausalMutation | CLINVAR | Expanding the clinical spectrum of SLC29A3 gene defects. | 20619369 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | Expanding the clinical spectrum of SLC29A3 gene defects. | 20619369 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. | 20140240 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. | 19889517 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. | 20595384 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | Early-onset sensorineural hearing loss is a prominent feature of H syndrome. | 20399510 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | H syndrome: novel and recurrent mutations in SLC29A3. | 20199539 | 2010 |
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|
A | 0.800 | CausalMutation | CLINVAR | Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. | 20595384 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. | 19336477 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | The H syndrome is caused by mutations in the nucleoside transporter hENT3. | 18940313 | 2008 |
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|
A | 0.800 | CausalMutation | CLINVAR | The H syndrome is caused by mutations in the nucleoside transporter hENT3. | 18940313 | 2008 |