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.
| ABCA12 ATP binding cassette subfamily A member 12 |
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| ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) |
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| ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase |
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| ACD ACD shelterin complex subunit and telomerase recruitment factor |
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| ACTN4 actinin alpha 4 |
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| ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 |
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| ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 |
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| ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 |
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| ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 |
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| ADAR adenosine deaminase RNA specific |
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| AHR aryl hydrocarbon receptor |
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| AKT1 AKT serine/threonine kinase 1 |
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| AKT3 AKT serine/threonine kinase 3 |
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| ALOX12B arachidonate 12-lipoxygenase, 12R type |
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| ALOXE3 arachidonate lipoxygenase 3 |
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| AMHR2 anti-Mullerian hormone receptor type 2 |
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| ANKFY1 ankyrin repeat and FYVE domain containing 1 |
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| ANKRD26 ankyrin repeat domain containing 26 |
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| ANKRD55 ankyrin repeat domain 55 |
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| ANLN anillin, actin binding protein |
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| APOL1 apolipoprotein L1 |
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| AQP2 aquaporin 2 |
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| ARHGAP24 Rho GTPase activating protein 24 |
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| ARHGDIA Rho GDP dissociation inhibitor alpha |
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| ARL11 ADP ribosylation factor like GTPase 11 |
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