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
Eec Syndrome Cleft Lip-cleft Palate-lobster Claw Deformity Syndrome Ecp Syndrome	TP63	Gene Disease Literature AI	Disease Literature AI (263)	GARD: 0002076 OMIM: 604292 Orphanet: 1896	PubMed
Hellp Syndrome Eph - Edema, Proteinuria And Hypertension Of Pregnancy Eph - Oedema, Proteinuria And Hypertension Of Pregnancy	CD46 HELLPAR CFI CFH	Gene Disease Literature AI	Disease Literature AI (54452)	GARD: 0008528 Orphanet: 244242	PubMed
Intellectual Disability-severe Speech Delay-mild Dysmorphism Syndrome Foxp1 Related Global Developmental Delay, Intellectual Disability And Speech Defects Foxp1 Syndrome	FOXP1	Gene Disease Literature AI	Disease Literature AI (17)	GARD: 0012501 OMIM: 613670 Orphanet: 391372	PubMed
Johanson-blizzard Syndrome Ectodermal Dysplasia-exocrine Pancreatic Insufficiency Jbs	UBR1	Gene Disease Literature AI	Disease Literature AI (143)	GARD: 0000080 OMIM: 243800 Orphanet: 2315	PubMed
Landau-kleffner Syndrome Adresd Aphasia, Acquired, With Epilepsy	GRIN2A	Gene Disease Literature AI	Disease Literature AI (936)	GARD: 0006855 OMIM: 245570 Orphanet: 98818	PubMed
Pituitary Stalk Interruption Syndrome Ectopic Neurohypophysis Psis	HESX1 LHX4 WDR11 GPR161 PROKR2 ROBO1 CDON	Gene Disease Literature AI	Disease Literature AI (227)	GARD: 0013209 Orphanet: 95496	PubMed
Rett Syndrome Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Autism Dementia Ataxia Loss Of Purposeful Hand Use Syndrome	MECP2	Gene Disease Literature AI	Disease Literature AI (791)	GARD: 0005696 OMIM: 312750 Orphanet: 778	PubMed
Wiskott-aldrich Syndrome Aldrich Syndrome Eczema-thrombocytopenia-immunodeficiency Syndrome	WIPF1 WAS	Gene Disease Literature AI	Disease Literature AI (2480)	GARD: 0007895 OMIM: 600903 Orphanet: 906	PubMed
Wolf-hirschhorn Syndrome 4p Deletion Syndrome 4p Syndrome, Chromosome	CTBP1 NELFA CPLX1 LETM1 PIGG NSD2	Gene Disease Literature AI	Disease Literature AI (719)	GARD: 0007896 OMIM: 194190 Orphanet: 280	PubMed

Showing 1 to 9 of 9 entries (filtered from 2,142 total entries)