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.

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	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
Cerebellar Ataxia-areflexia-pes Cavus-optic Atrophy-sensorineural Hearing Loss Syndrome Adoa Plus Adoa Plus (autosomal Dominant Optic Atrophy Plus)	ATP1A3	Gene Disease Literature AI	Disease Literature AI (272)	GARD: 0001188 OMIM: 601338 Orphanet: 1171	PubMed
Deafness, Autosomal Dominant 17 Cochleosaccular Degeneration Dfna17	MYH9	Gene Disease Literature AI	Disease Literature AI (16)	GARD: 0009726	PubMed
Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy Dfna 22	MYO6	Gene Disease Literature AI	Disease Literature AI (1)	GARD: 0009167	PubMed
Deafness, Autosomal Dominant 23 Dfna 23 Dfna23	SIX1	Gene Disease Literature AI	Disease Literature AI (1)	GARD: 0001708	PubMed

Showing 1 to 4 of 4 entries (filtered from 2,142 total entries)