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.
| ABAT 4-aminobutyrate aminotransferase |
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| ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase |
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| ACAD8 acyl-CoA dehydrogenase family member 8 |
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| ACADSB acyl-CoA dehydrogenase short/branched chain |
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| ALK ALK receptor tyrosine kinase |
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| APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 |
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| BCHE butyrylcholinesterase |
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| BLK BLK proto-oncogene, Src family tyrosine kinase |
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| BTK Bruton tyrosine kinase |
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| BTNL2 butyrophilin like 2 |
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| CARD14 caspase recruitment domain family member 14 |
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| DDR2 discoidin domain receptor tyrosine kinase 2 |
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| DSTYK dual serine/threonine and tyrosine protein kinase |
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| ERBB2 erb-b2 receptor tyrosine kinase 2 |
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| ERBB3 erb-b2 receptor tyrosine kinase 3 |
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| ERBB4 erb-b2 receptor tyrosine kinase 4 |
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| FAH fumarylacetoacetate hydrolase |
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| FLT3 fms related receptor tyrosine kinase 3 |
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| FLT4 fms related receptor tyrosine kinase 4 |
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| GABBR2 gamma-aminobutyric acid type B receptor subunit 2 |
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| GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 |
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| GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 |
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| GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 |
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| GABRD gamma-aminobutyric acid type A receptor subunit delta |
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| GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 |
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