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.
| AARS2 alanyl-tRNA synthetase 2, mitochondrial |
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| ABCA4 ATP binding cassette subfamily A member 4 |
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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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| 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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| BBS2 Bardet-Biedl syndrome 2 |
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| BEST1 bestrophin 1 |
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| CA4 carbonic anhydrase 4 |
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| CDHR1 cadherin related family member 1 |
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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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| CLRN1 clarin 1 |
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| CNGA1 cyclic nucleotide gated channel subunit alpha 1 |
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| CNGB1 cyclic nucleotide gated channel subunit beta 1 |
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| CRB1 crumbs cell polarity complex component 1 |
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| CRX cone-rod homeobox |
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| CSF1R colony stimulating factor 1 receptor |
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| DDB2 damage specific DNA binding protein 2 |
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| DHDDS dehydrodolichyl diphosphate synthase subunit |
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| DHX38 DEAH-box helicase 38 |
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| ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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