Browse Genes Associated with Rare Diseases
The table below displays a list of all genes contained within RARe-SOURCE™, which are associated with rare diseases. The table lists rare diseases linked to the gene, links to related features within RARe-SOURCE™ and links to external data sources. Clicking on the gene name, displays its genomic location, disease associations obtained from other data sources, and most recent publications on the gene from PubMed. Clicking on the associated rare disease lands on the ‘Rare Disease Information’ page with specific details on the disease.
| CIT citron rho-interacting serine/threonine kinase |
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| CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 |
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| DUSP6 dual specificity phosphatase 6 |
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| IDH1 isocitrate dehydrogenase (NADP(+)) 1 |
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| IDH2 isocitrate dehydrogenase (NADP(+)) 2 |
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| IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
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| IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
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| LCAT lecithin-cholesterol acyltransferase |
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| LRAT lecithin retinol acyltransferase |
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| OTULIN OTU deubiquitinase with linear linkage specificity |
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| SLC25A13 solute carrier family 25 member 13 |
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| SLC25A15 solute carrier family 25 member 15 |
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