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
Intellectual Developmental Disorder, Autosomal Dominant 29 Autosomal Dominant Intellectual Disability 29 Mrd29	SETBP1	Gene Disease Literature AI	Disease Literature AI (22933)	GARD: 0013379	PubMed
Intellectual Developmental Disorder, Autosomal Dominant 30 Autosomal Dominant Intellectual Disability 30 Mrd30	ZMYND11	Gene Disease Literature AI	Disease Literature AI (22932)	GARD: 0013136	PubMed
Intellectual Developmental Disorder, Autosomal Dominant 5 Autosomal Dominant Intellectual Disability 5 Mrd5	SYNGAP1	Gene Disease Literature AI	Disease Literature AI (22938)	GARD: 0012558	PubMed
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures Mental Retardation Autosomal Dominant 6	GRIN2B	Gene Disease Literature AI	Disease Literature AI (22932)	GARD: 0012851	PubMed
Intellectual Disability-craniofacial Dysmorphism-cryptorchidism Syndrome Autosomal Dominant Intellectual Disability-17 Intellectual Developmental Disorder, Autosomal Dominant 17	PACS1	Gene Disease Literature AI	Disease Literature AI (33)	GARD: 0013043 OMIM: 615009 Orphanet: 329224	PubMed

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