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.
CCNQ cyclin Q |
Entrez:
Ensembl:
HGNC:
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CPOX coproporphyrinogen oxidase |
Entrez:
Ensembl:
HGNC:
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DSPP dentin sialophosphoprotein |
Entrez:
Ensembl:
HGNC:
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FGA fibrinogen alpha chain |
Entrez:
Ensembl:
HGNC:
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FGB fibrinogen beta chain |
Entrez:
Ensembl:
HGNC:
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FGG fibrinogen gamma chain |
Entrez:
Ensembl:
HGNC:
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FTCD formimidoyltransferase cyclodeaminase |
Entrez:
Ensembl:
HGNC:
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IGBP1 immunoglobulin binding protein 1 |
Entrez:
Ensembl:
HGNC:
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IGH immunoglobulin heavy locus |
Variants (0)
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Entrez:
HGNC:
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IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) |
Entrez:
Ensembl:
HGNC:
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IGHM immunoglobulin heavy constant mu |
Entrez:
Ensembl:
HGNC:
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IGHMBP2 immunoglobulin mu DNA binding protein 2 |
Entrez:
Ensembl:
HGNC:
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IGHV3-21 immunoglobulin heavy variable 3-21 |
Entrez:
Ensembl:
HGNC:
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IGLL1 immunoglobulin lambda like polypeptide 1 |
Entrez:
Ensembl:
HGNC:
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KNG1 kininogen 1 |
Entrez:
Ensembl:
HGNC:
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LRIG2 leucine rich repeats and immunoglobulin like domains 2 |
Entrez:
Ensembl:
HGNC:
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MVK mevalonate kinase |
Entrez:
Ensembl:
HGNC:
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NOG noggin |
Entrez:
Ensembl:
HGNC:
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PLAU plasminogen activator, urokinase |
Entrez:
Ensembl:
HGNC:
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PLG plasminogen |
Entrez:
Ensembl:
HGNC:
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PPOX protoporphyrinogen oxidase |
Entrez:
Ensembl:
HGNC:
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RBPJ recombination signal binding protein for immunoglobulin kappa J region |
Entrez:
Ensembl:
HGNC:
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SERPINE1 serpin family E member 1 |
Entrez:
Ensembl:
HGNC:
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SLC36A2 solute carrier family 36 member 2 |
Entrez:
Ensembl:
HGNC:
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SLC6A18 solute carrier family 6 member 18 |
Entrez:
Ensembl:
HGNC:
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