Browse Rare Disease Information
The table below displays a list of all rare diseases contained within RARe-SOURCE™, their gene associations, links to related features within RARe-SOURCE™ and links to external data sources. Clicking on the disease name, lists all the disease aliases available in RARe-SOURCE™ for this disease as well as recent publications obtained from PubMed. Clicking on the associated gene lands on the ‘Gene Information’ page with specific details on the gene.
| Alg13-cdg |
Disease Literature AI (9) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Developmental And Epileptic Encephalopathy 12 |
Disease Literature AI (2148) | GARD:
|
PubMed | |||
| Developmental And Epileptic Encephalopathy 26 |
Disease Literature AI (1802) | GARD:
|
PubMed | |||
| Developmental And Epileptic Encephalopathy 4 |
Disease Literature AI (3145) | GARD:
|
PubMed | |||
| Dravet Syndrome |
Disease Literature AI (10440) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Multiple Congenital Anomalies-hypotonia-seizures Syndrome Type 2 |
Disease Literature AI (9) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Slc35a2-cdg |
Disease Literature AI (9) | GARD:
OMIM:
Orphanet:
|
PubMed |