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
Autosomal Dominant Polycystic Kidney Disease Type 1 With Tuberous Sclerosis Chromosome 16p13.3 Deletion Syndrome, Distal Pkdts	TSC2 PKD1	Gene Disease Literature AI	Disease Literature AI (27)	GARD: 0009481 OMIM: 600273 Orphanet: 88924	PubMed
Hajdu-cheney Syndrome Acroosteolysis With Osteoporosis And Changes In Skull And Mandible Arthrodentoosteodysplasia	NOTCH2	Gene Disease Literature AI	Disease Literature AI (209)	GARD: 0000508 OMIM: 102400 Orphanet: 955	PubMed
Ichthyosis Follicularis-alopecia-photophobia Syndrome Ichthyosis Follicularis, Atrichia, And Photophobia With Or Without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/eye Anomalies, Cleft Palate/cryptorchidism, And Kidney Dysplasia/hypoplasia Ifap Syndrome	MBTPS2	Gene Disease Literature AI	Disease Literature AI (53)	GARD: 0002952 OMIM: 308205 Orphanet: 2273	PubMed
Keratitis-ichthyosis-deafness Syndrome, Autosomal Recessive Autosomal Recessive Kid (keratitis, Ichthyosis, Deafness) Syndrome Autosomal Recessive Keratitis-ichthyosis-deafness Syndrome	AP1B1	Gene Disease Literature AI	Disease Literature AI (528)	GARD: 0002946	PubMed
Kid Syndrome Autosomal Dominant Kid (keratitis, Ichthyosis, Deafness) Syndrome Autosomal Dominant Keratitis, Ichthyosis, Deafness Syndrome	GJB2 GJB6	Gene Disease Literature AI	Disease Literature AI (167)	GARD: 0003113 OMIM: 148210 Orphanet: 477	PubMed
Medullary Sponge Kidney Cacchi Ricci Disease Cacchi Ricci Syndrome	HNF1B	Gene Disease Literature AI	Disease Literature AI (682)	GARD: 0000232 Orphanet: 1309	PubMed
Renal Coloboma Syndrome Cakut With Or Without Ocular Abnormalities Coloboma Of Optic Nerve With Renal Disease	PAX2	Gene Disease Literature AI	Disease Literature AI (125)	GARD: 0004106 OMIM: 120330 Orphanet: 1475	PubMed
Serkal Syndrome 46,xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs 46,xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs; Serkal	WNT4	Gene Disease Literature AI	Disease Literature AI (1)	GARD: 0010302 OMIM: 611812 Orphanet: 139466	PubMed

Showing 1 to 8 of 8 entries (filtered from 2,142 total entries)