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.
| CFH complement factor H |
Entrez:
Ensembl:
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| CFHR1 complement factor H related 1 |
Entrez:
Ensembl:
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| EFHC1 EF-hand domain containing 1 |
Entrez:
Ensembl:
HGNC:
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| FH fumarate hydratase |
Entrez:
Ensembl:
HGNC:
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| FHIT fragile histidine triad diadenosine triphosphatase |
Entrez:
Ensembl:
HGNC:
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| FHL1 four and a half LIM domains 1 |
Entrez:
Ensembl:
HGNC:
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| FHL2 four and a half LIM domains 2 |
Entrez:
Ensembl:
HGNC:
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| INF2 inverted formin, FH2 and WH2 domain containing |
Entrez:
Ensembl:
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| NEFH neurofilament heavy chain |
Entrez:
Ensembl:
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| PFHB2 Progressive familial heart block, type II |
Variants (0)
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Entrez:
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