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.
| C2 complement C2 |
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| C5 complement C5 |
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| C8A complement C8 alpha chain |
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| C8B complement C8 beta chain |
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| CHMP2B charged multivesicular body protein 2B |
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| COG1 component of oligomeric golgi complex 1 |
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| COG4 component of oligomeric golgi complex 4 |
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| COG5 component of oligomeric golgi complex 5 |
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| COG6 component of oligomeric golgi complex 6 |
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| COG7 component of oligomeric golgi complex 7 |
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| COG8 component of oligomeric golgi complex 8 |
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| CRB1 crumbs cell polarity complex component 1 |
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| CRB2 crumbs cell polarity complex component 2 |
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| CTC1 CST telomere replication complex component 1 |
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| EXOC6B exocyst complex component 6B |
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| EXOSC3 exosome component 3 |
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| EXOSC8 exosome component 8 |
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| EXOSC9 exosome component 9 |
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| GRN granulin precursor |
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| HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 |
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| HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 |
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| MAPT microtubule associated protein tau |
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| MPO myeloperoxidase |
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| PGRMC1 progesterone receptor membrane component 1 |
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| PIEZO1 piezo type mechanosensitive ion channel component 1 |
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