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.
| APP amyloid beta precursor protein |
Entrez:
Ensembl:
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| APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 |
Entrez:
Ensembl:
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| AVPR2 arginine vasopressin receptor 2 |
Entrez:
Ensembl:
HGNC:
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| BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 |
Variants (0)
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Entrez:
Ensembl:
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| HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 |
Entrez:
Ensembl:
HGNC:
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| HYDIN HYDIN axonemal central pair apparatus protein |
Entrez:
Ensembl:
HGNC:
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| IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
Entrez:
Ensembl:
HGNC:
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| NFKB1 nuclear factor kappa B subunit 1 |
Entrez:
Ensembl:
HGNC:
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| NFKB2 nuclear factor kappa B subunit 2 |
Entrez:
Ensembl:
HGNC:
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| NUMA1 nuclear mitotic apparatus protein 1 |
Entrez:
Ensembl:
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| RBPJ recombination signal binding protein for immunoglobulin kappa J region |
Entrez:
Ensembl:
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| TRAPPC11 trafficking protein particle complex subunit 11 |
Entrez:
Ensembl:
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| TRAPPC14 trafficking protein particle complex subunit 14 |
Variants (0)
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Entrez:
Ensembl:
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| TRAPPC2 trafficking protein particle complex subunit 2 |
Entrez:
Ensembl:
HGNC:
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