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
Fibromatosis, Gingival, 1 Autosomal Dominant Gingival Fibromatosis Autosomal Dominant Gingival Hyperplasia	SOS1	Gene Disease Literature AI	Disease Literature AI (175)	GARD: 0006509	PubMed
Fibromatosis, Gingival, 3 Fibromatosis, Gingival, Hereditary, 3 Fibromatosis Gingival, Hereditary, 3	GINGF3	Gene Disease Literature AI (0)	Disease Literature AI (0)	GARD: 0009911	PubMed
Gingival Fibromatosis-hypertrichosis Syndrome Cght Chromosome 17q24.2-q24.3 Deletion Syndrome	ABCA5	Gene Disease Literature AI	Disease Literature AI (2587)	GARD: 0002324 OMIM: 135400 Orphanet: 2026	PubMed
Zimmermann-laband Syndrome Fibromatosis, Gingival, With Abnormal Fingers, Fingernails, Nose, And Ears, And Splenomegaly Fibromatosis Gingival, Hepatosplenomegaly Other Anomalies	KCNN3 KCNH1 ATP6V1B2	Gene Disease Literature AI	Disease Literature AI (67)	GARD: 0000385 OMIM: 135500 Orphanet: 3473	PubMed

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