| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
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1.000 | Biomarker | CTD_human | Anti-apoptotic and Beneficial Metabolic Activities of Resveratrol in Type II Gaucher Disease. | 26027833 | 2015 |
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1.000 | Biomarker | CTD_human | Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity. | 21250698 | 2011 |
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1.000 | Biomarker | CTD_human | New glucocerebrosidase inhibitors by exploration of chemical diversity of N-substituted aminocyclitols using click chemistry and in situ screening. | 21370884 | 2011 |
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1.000 | Biomarker | CTD_human | Other characteristics of patients presenting with severe PH were poor compliance to ERT (4/9 patients) or no ERT (5/9 patients), a family history of a sib with GD and PH (2/2 patients), an excess of ACE I allele (OR 2.3, 95% CI 1.1-4.9, P=0.034) and an excess of non-N370S GBA mutation (OR 6.0, 95% CI 1.1-33, P=0.003). | 12359135 | 2003 |
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1.000 | Biomarker | CTD_human | Molecular analysis of 12 unrelated Portuguese patients with type 1 GD identified three novel acid beta-glucosidase mutations (F109V, W184R and R395P), as well as three previously reported, but uncharacterized, lesions (R359Q, G377S and N396T). | 10757640 | 2000 |
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1.000 | Biomarker | CTD_human | Glucosylceramide metabolism is regulated during normal and hormonally stimulated epidermal barrier development in the rat. | 9101438 | 1997 |