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.
| ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
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| ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
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| ATP2C1 ATPase secretory pathway Ca2+ transporting 1 |
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| BRCA2 BRCA2 DNA repair associated |
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| CA2 carbonic anhydrase 2 |
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| OCA2 OCA2 melanosomal transmembrane protein |
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| PALB2 partner and localizer of BRCA2 |
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| SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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