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
Congenital Factor Ii Deficiency Dysprothrombinemia Hypoprothrombinemia	F2	Gene Disease Literature AI	Disease Literature AI (521)	GARD: 0002926 OMIM: 613679 Orphanet: 325	PubMed
Congenital Factor Vii Deficiency Congenital Proconvertin Deficiency F7 Deficiency	F7	Gene Disease Literature AI	Disease Literature AI (686)	GARD: 0002238 OMIM: 227500 Orphanet: 327	PubMed
Congenital Factor Xii Deficiency Coagulation Factor 12 Deficiency Congenital Hageman Factor Deficiency	F12	Gene Disease Literature AI	Disease Literature AI (283)	GARD: 0006558 OMIM: 234000 Orphanet: 330	PubMed
Congenital Factor Xiii Deficiency Congenital Factor Xiii Deficiency Deficiencies, Factor 13	F13B F13A1	Gene Disease Literature AI	Disease Literature AI (480)	GARD: 0010766 OMIM: 613225 Orphanet: 331	PubMed
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive Autosomal Recessive Hereditary Thrombophilia Due To Protein C Deficiency Autosomal Recessive Protein C Deficiency	PROC	Gene Disease Literature AI	Disease Literature AI (1385)	GARD: 0013041	PubMed

Showing 1 to 5 of 5 entries (filtered from 2,142 total entries)