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
Autosomal Recessive Polycystic Kidney Disease Ar Polycystic Kidney Disease Ar-pkd	DZIP1L PKHD1	Gene Disease Literature AI	Disease Literature AI (912)	GARD: 0008378 OMIM: 263200 Orphanet: 731	PubMed
Cystic Fibrosis Cf Cf - Cystic Fibrosis	KCNN4 CFTR GCLC GSTM3 HFE EDNRA CLCA4 SLC6A14 SLC11A1 SLC9A3 SERPINA1 MIF STX1A TGFB1 SLC26A9 DCTN4 CEACAM3 CEACAM6 HMOX1	Gene Disease Literature AI	Disease Literature AI (53623)	GARD: 0006233 OMIM: 219700 Orphanet: 586	PubMed
Idiopathic Pulmonary Fibrosis Cfa Cryptogenic Fibrosing Alveolitides	PARN SFTPA1 SFTPA2 SFTPC TERC TERT ATP11A RTEL1 DPP9 FAM13A STN1 DSP ABCA3 MUC5B	Gene Disease Literature AI	Disease Literature AI (15305)	GARD: 0008609 OMIM: 616373 Orphanet: 2032	PubMed
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease Congenital Fibrose Liver Congenital Hepatic Fibrosis	PKHD1	Gene Disease Literature AI	Disease Literature AI (6513)	GARD: 0006168	PubMed

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