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.
| APC APC regulator of WNT signaling pathway |
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| APC2 APC regulator of WNT signaling pathway 2 |
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| BCL10 BCL10 immune signaling adaptor |
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| CNPY3 canopy FGF signaling regulator 3 |
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| DHH desert hedgehog signaling molecule |
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| DKK1 dickkopf WNT signaling pathway inhibitor 1 |
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| GNAL G protein subunit alpha L |
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| GPSM2 G protein signaling modulator 2 |
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| IHH Indian hedgehog signaling molecule |
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| MYD88 MYD88 innate immune signal transduction adaptor |
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| RBPJ recombination signal binding protein for immunoglobulin kappa J region |
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| RGS9 regulator of G protein signaling 9 |
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| RGS9BP regulator of G protein signaling 9 binding protein |
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| SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 |
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| SHH sonic hedgehog signaling molecule |
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| SIPA1L3 signal induced proliferation associated 1 like 3 |
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| SPRY4 sprouty RTK signaling antagonist 4 |
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| SRP54 signal recognition particle 54 |
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| SSR4 signal sequence receptor subunit 4 |
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| STAT1 signal transducer and activator of transcription 1 |
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| STAT3 signal transducer and activator of transcription 3 |
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| STAT4 signal transducer and activator of transcription 4 |
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| STAT5B signal transducer and activator of transcription 5B |
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| STRA6 signaling receptor and transporter of retinol STRA6 |
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| SUFU SUFU negative regulator of hedgehog signaling |
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