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 13 |
Disease Literature AI (2264) | GARD:
|
PubMed | |||
| Developmental And Epileptic Encephalopathy 17 |
Disease Literature AI (1824) | GARD:
|
PubMed | |||
| Developmental And Epileptic Encephalopathy 18 |
Disease Literature AI (2564) | GARD:
|
PubMed | |||
| Developmental And Epileptic Encephalopathy 94 |
Disease Literature AI (1848) | GARD:
|
PubMed | |||
| Female Restricted Epilepsy With Intellectual Disability |
Disease Literature AI (31) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Kcnq2-related Epileptic Encephalopathy |
Disease Literature AI (14) | GARD:
OMIM:
Orphanet:
|
PubMed |