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
Hemoglobin C Disease C Disease, Hemoglobin C Diseases, Hemoglobin	HBB	Gene Disease Literature AI	Disease Literature AI (90)	GARD: 0002640 Orphanet: 2132	PubMed
Hemoglobin E Disease Beta Thalassemia/hemoglobin E Disease Hb-e Disease	HBB	Gene Disease Literature AI	Disease Literature AI (137)	GARD: 0002641 Orphanet: 2133	PubMed
Hemoglobin M Disease Autosomal Dominant Methemoglobinemia Blue Baby Syndrome	HBA2 HBB HBA1	Gene Disease Literature AI	Disease Literature AI (37)	GARD: 0013007 OMIM: 617971 Orphanet: 330041	PubMed
Hereditary Methemoglobinemia Autosomal Recessive Methemoglobinemia Congenital Methemoglobinemia	CYB5R3 CYB5A	Gene Disease Literature AI	Disease Literature AI (204)	GARD: 0002659 OMIM: 250800 Orphanet: 621	PubMed
Paroxysmal Nocturnal Hemoglobinuria Cold Paroxysmal Hemoglobinuria Hemoglobinuria, Cold Paroxysmal	PIGA	Gene Disease Literature AI	Disease Literature AI (4060)	GARD: 0007337 OMIM: 615399 Orphanet: 447	PubMed
Pyruvate Dehydrogenase E3 Deficiency Autosomal Recessive Congenital Methemoglobinemia Chronic Familial Methemoglobin Reductase Deficiency	DLD	Gene Disease Literature AI	Disease Literature AI (132)	GARD: 0003263 OMIM: 246900 Orphanet: 2394	PubMed
Sickle Cell Anemia Anemia, Sickle Cell Anemias, Sickle Cell	HBB	Gene Disease Literature AI	Disease Literature AI (32935)	GARD: 0008614 OMIM: 603903 Orphanet: 232	PubMed
Sickle Cell-beta-thalassemia Disease Syndrome Double Heterozygous For Hb S And Beta Thalassemia Hb S Beta-thalassemia	HBB	Gene Disease Literature AI	Disease Literature AI (194)	GARD: 0010333 Orphanet: 251359	PubMed
Sickle Cell-hemoglobin C Disease Syndrome Disease, Hemoglobin Sc Disease, Sc	HBB	Gene Disease Literature AI	Disease Literature AI (670)	GARD: 0006584 Orphanet: 251365	PubMed
Sickle Cell-hemoglobin D Disease Syndrome Double Heterozygous For Hb S + Hb D Punjab Hbs-hbd Disease	HBB	Gene Disease Literature AI	Disease Literature AI (23)	GARD: 0012458 Orphanet: 251370	PubMed

Showing 1 to 10 of 10 entries (filtered from 2,142 total entries)