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.

Search:

entries per page

	Rare Disease Name	Associated Genes	Gene Disease Annotations	Disease Annotations	Disease IDs	Links

Rare Disease Name	Associated Genes	Gene Disease Annotations	Disease Annotations	Disease IDs	Links
Andersen-tawil Syndrome Andersen Syndrome Lqt7	KCNJ5 KCNJ2	Gene Disease Literature AI	Disease Literature AI (264)	GARD: 0009453 OMIM: 170390 Orphanet: 37553	PubMed
Jacobsen Syndrome 11q Deletion Disorder 11q Deletion Syndrome	FLI1	Gene Disease Literature AI	Disease Literature AI (238)	GARD: 0000307 OMIM: 147791 Orphanet: 2308	PubMed
Jervell And Lange-nielsen Syndrome Cardioauditory Syndrome Of Jervell And Lange-nielsen Cardio Auditory Syncope Syndrome	KCNQ1 KCNE1	Gene Disease Literature AI	Disease Literature AI (4245)	GARD: 0003048 OMIM: 612347 Orphanet: 90647	PubMed
Long Qt Syndrome 10 Atfb17 Atrial Fibrillation, Familial, 17	SCN4B	Gene Disease Literature AI	Disease Literature AI (88)	GARD: 0010436	PubMed
Long Qt Syndrome 11 Akap9 Long Qt Syndrome Lqt11	AKAP9	Gene Disease Literature AI	Disease Literature AI (1)	GARD: 0010437	PubMed
Long Qt Syndrome 2 Long Qt Syndrome 1/2, Digenic Long Qt Syndrome 2, Acquired, Reduced Susceptibility To	ALG10B KCNH2	Gene Disease Literature AI	Disease Literature AI (337)	GARD: 0003285	PubMed
Long Qt Syndrome 3 Long Qt Syndrome 2/3, Digenic Long Qt Syndrome 3, Acquired, Susceptibility To	SCN5A	Gene Disease Literature AI	Disease Literature AI (272)	GARD: 0003286	PubMed
Long Qt Syndrome 5 Kcne1 Long Qt Syndrome Long Qt Syndrome 2/5, Digenic	KCNE1	Gene Disease Literature AI	Disease Literature AI (13)	GARD: 0010433	PubMed
Long Qt Syndrome 6 Kcne2 Long Qt Syndrome Long Qt Syndrome 3/6, Digenic	KCNE2	Gene Disease Literature AI	Disease Literature AI (6)	GARD: 0010434	PubMed
Long Qt Syndrome 9 Cav3 Long Qt Syndrome Long Qt Syndrome 2/9, Digenic	CAV3	Gene Disease Literature AI	Disease Literature AI (7)	GARD: 0010435	PubMed
Romano-ward Syndrome Long Qt Syndrome 1, Acquired, Susceptibility To Long Qt Syndrome 1/2, Digenic	KCNE1 TBX5 TRDN SCN5A SCN4B SCN10A CALM1 KCNQ1 KCNJ5 KCNH2 CALM2 CALM3 CAV3 NOS1AP AKAP9 ANK2 KCNE2 SNTA1 CACNA1C	Gene Disease Literature AI	Disease Literature AI (561)	GARD: 0003284 OMIM: 616249 Orphanet: 101016	PubMed

Showing 1 to 11 of 11 entries (filtered from 2,142 total entries)