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
Progressive Pseudorheumatoid Arthropathy Of Childhood Arthropathy, Progressive Pseudorheumatoid, Of Childhood Ppac	CCN6	Gene Disease Literature AI	Disease Literature AI (342)	GARD: 0009184 OMIM: 208230 Orphanet: 1159	PubMed
Spondyloepiphyseal Dysplasia Congenita Congenital Spondyloepiphyseal Dysplasia Late Spondyloepiphyseal Dysplasia	COL2A1	Gene Disease Literature AI	Disease Literature AI (193)	GARD: 0004987 OMIM: 183900 Orphanet: 94068	PubMed
Spondyloepiphyseal Dysplasia Tarda, X-linked Sed Sed Tarda, X-linked	TRAPPC2	Gene Disease Literature AI	Disease Literature AI (3811)	GARD: 0004985	PubMed
Spondyloepiphyseal Dysplasia Tarda Autosomal Dominant Spondyloepiphyseal Dysplasia Tarda Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	TRAPPC2	Gene Disease Literature AI	Disease Literature AI (114)	GARD: 0010624 OMIM: 184100 Orphanet: 93284	PubMed

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