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
Intermediate Osteopetrosis Autosomal Recessive Intermediate Osteopetrosis Autosomal Recessive Osteopetrosis Type 6	CLCN7 PLEKHM1 TCIRG1	Gene Disease Literature AI	Disease Literature AI (8)	GARD: 0004156 OMIM: 611497 Orphanet: 210110	PubMed
Osteopetrosis With Renal Tubular Acidosis Autosomal Recessive Osteopetrosis, Type 3 Autosomal Recessive Osteopetrosis Type 3	CA2	Gene Disease Literature AI	Disease Literature AI (65)	GARD: 0004154 OMIM: 259730 Orphanet: 2785	PubMed
Osteopetrosis, Autosomal Recessive 1 Albers-schonberg Disease, Autosomal Recessive Autosomal Recessive Osteopetrosis Type 1	TCIRG1	Gene Disease Literature AI	Disease Literature AI (2451)	GARD: 0002579	PubMed
Osteopetrosis, Autosomal Recessive 2 Autosomal Recessive Osteopetrosis Type 2 Mild Autosomal Recessive Form Of Osteopetrosis	TNFSF11	Gene Disease Literature AI	Disease Literature AI (2039)	GARD: 0004157	PubMed
Osteopetrosis, Autosomal Recessive 5 Autosomal Recessive Osteopetrosis Type 5 Infantile Osteopetrosis And Neuronal Storage Disease	OSTM1	Gene Disease Literature AI	Disease Literature AI (2179)	GARD: 0004153	PubMed
Osteopetrosis-hypogammaglobulinemia Syndrome Autosomal Recessive Osteoclast-poor Osteopetrosis With Hypogammaglobulinemia Autosomal Recessive Osteopetrosis Type 7	TNFRSF11A	Gene Disease Literature AI	Disease Literature AI (1)	GARD: 0010106 OMIM: 612301 Orphanet: 178389	PubMed

Showing 1 to 6 of 6 entries (filtered from 2,142 total entries)