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.
| AP2M1 adaptor related protein complex 2 subunit mu 1 |
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| ASAH1 N-acylsphingosine amidohydrolase 1 |
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| CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 |
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| CHD2 chromodomain helicase DNA binding protein 2 |
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| CILK1 ciliogenesis associated kinase 1 |
Variants (0)
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| CLCN2 chloride voltage-gated channel 2 |
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| CSTB cystatin B |
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| DRD2 dopamine receptor D2 |
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| EFHC1 EF-hand domain containing 1 |
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| GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 |
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| GABRD gamma-aminobutyric acid type A receptor subunit delta |
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| GOSR2 golgi SNAP receptor complex member 2 |
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| JRK Jrk helix-turn-helix protein |
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| KCNQ3 potassium voltage-gated channel subfamily Q member 3 |
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| KCTD17 potassium channel tetramerization domain containing 17 |
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| KCTD7 potassium channel tetramerization domain containing 7 |
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| MEF2C myocyte enhancer factor 2C |
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| MYOC myocilin |
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| NEXMIF neurite extension and migration factor |
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| PRICKLE1 prickle planar cell polarity protein 1 |
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| SCARB2 scavenger receptor class B member 2 |
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| SCN1A sodium voltage-gated channel alpha subunit 1 |
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| SGCE sarcoglycan epsilon |
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| SLC2A1 solute carrier family 2 member 1 |
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| SLC6A1 solute carrier family 6 member 1 |
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