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
Adan Amyloidosis Cerebellar Ataxia, Cataract, Deafness, And Dementia Or Psychosis Cerebral Amyloid Angiopathy, Itm2b-related, 2	ITM2B	Gene Disease Literature AI	Disease Literature AI (191)	GARD: 0009169 OMIM: 117300 Orphanet: 97346	PubMed
Autosomal Dominant Vitreoretinochoroidopathy Advirc Autosomal Dominant Vitreoretinochoroidopathy	BEST1	Gene Disease Literature AI	Disease Literature AI (40)	GARD: 0005507 OMIM: 193220 Orphanet: 3086	PubMed
Aymé-gripp Syndrome Aygrp Ayme-gripp Syndrome; Aygrp	MAF	Gene Disease Literature AI	Disease Literature AI (25)	GARD: 0000958 OMIM: 601353 Orphanet: 1272	PubMed
Cataract 35 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract Congenital Nuclear Cataract, Autosomal Recessive	CTRCT35	Gene Disease Literature AI (0)	Disease Literature AI (0)	GARD: 0009492	PubMed
Congenital Cataract-hypertrophic Cardiomyopathy-mitochondrial Myopathy Syndrome Cardiomyopathy And Cataract Cataract And Cardiomyopathy	AGK TKFC SLC25A4	Gene Disease Literature AI	Disease Literature AI (44)	GARD: 0001142 OMIM: 212350 Orphanet: 1369	PubMed
Hereditary Hyperferritinemia-cataract Syndrome Bonneau-beaumont Syndrome Cataract-hyperferritinemia Syndrome	FTL	Gene Disease Literature AI	Disease Literature AI (135)	GARD: 0002806 OMIM: 600886 Orphanet: 163	PubMed
Intellectual Disability-cataracts-calcified Pinnae-myopathy Syndrome Intellectual Disability, Cataract, Calcified Pinna, Myopathy Syndrome Ossified Ear Cartilages With Mental Deficiency, Muscle Wasting, And Bony Changes	ZBTB20	Gene Disease Literature AI	Disease Literature AI (3552)	GARD: 0004488 OMIM: 259050 Orphanet: 3042	PubMed
Marshall Syndrome Deafness, Myopia, Cataract, Saddle Nose-marshall Type Mrshs	COL11A1	Gene Disease Literature AI	Disease Literature AI (71)	GARD: 0006984 OMIM: 154780 Orphanet: 560	PubMed
Nance-horan Syndrome Cataract, X-linked, With Hutchinsonian Teeth Cataract-dental Syndrome	NHS	Gene Disease Literature AI	Disease Literature AI (127)	GARD: 0007161 OMIM: 302350 Orphanet: 627	PubMed
Oculofaciocardiodental Syndrome Anop2 (formerly) Anop2, Formerly	BCOR	Gene Disease Literature AI	Disease Literature AI (74)	GARD: 0004628 OMIM: 300166 Orphanet: 2712	PubMed
Total Early-onset Cataract Cct Cataract, Total Congenital	PGRMC1 NHS MIP LSS GJA8 GCNT2 EPHA2 DNMBP CRYGB CRYBB2 SIPA1L3 AGK LEMD2 HSF4 LIM2 CRYAA FYCO1	Gene Disease Literature AI	Disease Literature AI (114)	GARD: 0001159 OMIM: 618415 Orphanet: 98994	PubMed

Showing 1 to 11 of 11 entries (filtered from 2,142 total entries)