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
Carvajal Syndrome Carvajal Syndrome Cardiomyopathy Dilated With Woolly Hair And Keratoderma	DSP	Gene Disease Literature AI	Disease Literature AI (44)	GARD: 0005595 OMIM: 615821 Orphanet: 65282	PubMed
Epidermolytic Palmoplantar Keratoderma Diffuse Erythrodermic Palmoplantar Keratoderma Diffuse Erythrodermic Palmoplantar Keratoderma, Voerner Type	KRT1 KRT16 KRT9	Gene Disease Literature AI	Disease Literature AI (206)	GARD: 0002826 OMIM: 144200 Orphanet: 2199	PubMed
Krt1-related Diffuse Nonepidermolytic Keratoderma Diffuse Neppk Diffuse Nonepidermolytic Palmoplantar Keratoderma	KRT1	Gene Disease Literature AI	Disease Literature AI (112)	GARD: 0005186 OMIM: 600962 Orphanet: 530838	PubMed
Non-epidermolytic Palmoplantar Keratoderma Autosomal Dominant Diffuse Palmoplantar Keratoderma Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type	AQP5	Gene Disease Literature AI	Disease Literature AI (157)	GARD: 0001862 OMIM: 600231 Orphanet: 2337	PubMed

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