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.
| ABCA4 ATP binding cassette subfamily A member 4 |
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| ACO2 aconitase 2 |
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| AGBL5 AGBL carboxypeptidase 5 |
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| AHI1 Abelson helper integration site 1 |
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| AHR aryl hydrocarbon receptor |
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| AK2 adenylate kinase 2 |
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| ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 |
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| ARL2BP ADP ribosylation factor like GTPase 2 binding protein |
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| ARL3 ADP ribosylation factor like GTPase 3 |
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| ARL6 ADP ribosylation factor like GTPase 6 |
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| 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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| BBS2 Bardet-Biedl syndrome 2 |
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| BEST1 bestrophin 1 |
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| BNC2 basonuclin 2 |
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| C1QTNF5 C1q and TNF related 5 |
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| CA4 carbonic anhydrase 4 |
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| CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
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| CALR calreticulin |
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| CDHR1 cadherin related family member 1 |
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| CDKL5 cyclin dependent kinase like 5 |
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| CERKL ceramide kinase like |
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| CFAP418 cilia and flagella associated protein 418 |
Variants (0)
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| CHN1 chimerin 1 |
Entrez:
Ensembl:
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