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
3-methylglutaconic Aciduria Type 3 3-@methylglutaconic Aciduria, Type Iii 3-alpha Methylglutaconic Aciduria Type Iii	MICOS13 OPA3	Gene Disease Literature AI	Disease Literature AI (30)	GARD: 0005663 OMIM: 258501 Orphanet: 67047	PubMed
Autosomal Dominant Optic Atrophy And Cataract Adoac Autosomal Dominant Optic Atrophy Type 3	OPA3	Gene Disease Literature AI	Disease Literature AI (367)	GARD: 0010203 OMIM: 165300 Orphanet: 67036	PubMed
Autosomal Dominant Optic Atrophy Plus Syndrome Doa+ Optic Atrophy-deafness-polyneuropathy-myopathy Syndrome	OPA1	Gene Disease Literature AI	Disease Literature AI (219)	GARD: 0005243 OMIM: 165199 Orphanet: 1215	PubMed
Autosomal Dominant Optic Atrophy, Classic Form Autosomal Dominant Optic Atrophy Autosomal Dominant Optic Atrophy, Kjer Type	OPA1 DNM1L	Gene Disease Literature AI	Disease Literature AI (565)	GARD: 0009890 OMIM: 618977 Orphanet: 98673	PubMed
Autosomal Recessive Spastic Ataxia-optic Atrophy-dysarthria Syndrome Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria Autosomal Recessive Spastic Ataxia 4	MTPAP	Gene Disease Literature AI	Disease Literature AI (1)	GARD: 0010992 OMIM: 613672 Orphanet: 254343	PubMed
Camos Syndrome Camos Camos (cerebellar Ataxia, Mental Retardation, Optic Atrophy, Skin Abnormalities) Syndrome	WDR73 ZNF592	Gene Disease Literature AI	Disease Literature AI (1)	GARD: 0009977 OMIM: 606937 Orphanet: 83472	PubMed
Central Areolar Choroidal Dystrophy Areolar Atrophy Of The Macula Cacd	GUCA1A GUCY2D PRPH2	Gene Disease Literature AI	Disease Literature AI (1449)	GARD: 0010049 OMIM: 613105 Orphanet: 75377	PubMed
Galloway-mowat Syndrome Camos Gamos	TPRKB NUP107 OSGEP NUP133 WDR4 TP53RK WDR73 LAGE3	Gene Disease Literature AI	Disease Literature AI (94)	GARD: 0000065 OMIM: 618349 Orphanet: 2065	PubMed
Leber Hereditary Optic Neuropathy Disease, Leber's Diseases, Leber's	NDUFS2 DNAJC30	Gene Disease Literature AI	Disease Literature AI (1071)	GARD: 0006870 OMIM: 535000 Orphanet: 104	PubMed
Lethal Ataxia With Deafness And Optic Atrophy Arts Arts Syndrome And Phosphoribosylpyrophosphate Synthetase Superactivity	PRPS1	Gene Disease Literature AI	Disease Literature AI (46)	GARD: 0008756 OMIM: 301835 Orphanet: 1187	PubMed
Mepan Syndrome Autosomal Recessive Childhood-onset Dystonia Childhood-onset Generalized Dystonia-optic Atrophy Syndrome	MECR	Gene Disease Literature AI	Disease Literature AI (3)	GARD: 0013488 OMIM: 617282 Orphanet: 508093	PubMed
Micro Syndrome Micro Syndrome Micro Syndrome 1	TBC1D20 RAB18 RAB3GAP2 RAB3GAP1	Gene Disease Literature AI	Disease Literature AI (76)	GARD: 0005534 OMIM: 615663 Orphanet: 2510	PubMed
Mohr-tranebjaerg Syndrome Ddon Syndrome Ddp	TIMM8A	Gene Disease Literature AI	Disease Literature AI (1594)	GARD: 0008331 OMIM: 304700 Orphanet: 52368	PubMed
Optic Atrophy 5 Opa5 Optic Atrophy 5	DNM1L	Gene Disease Literature AI (0)	Disease Literature AI (0)	GARD: 0010201	PubMed
Optic Atrophy 6 Opa6 Optic Atrophy, Congenital Or Early Infantile, Autosomal Recessive	OPA6	Gene Disease Literature AI (0)	Disease Literature AI (0)	GARD: 0010200	PubMed
Peho Syndrome Infantile Cerebellooptic Atrophy Peho	ZNHIT3 KIF1A	Gene Disease Literature AI	Disease Literature AI (52)	GARD: 0004264 OMIM: 260565 Orphanet: 2836	PubMed
Pontocerebellar Hypoplasia Type 3 Cerebellar Atrophy With Progressive Microcephaly Clam	PCLO	Gene Disease Literature AI	Disease Literature AI (25)	GARD: 0010708 OMIM: 608027 Orphanet: 97249	PubMed
Short Stature-optic Atrophy-pelger-huët Anomaly Syndrome Soph Soph Syndrome	NBAS	Gene Disease Literature AI	Disease Literature AI (24)	GARD: 0010945 OMIM: 614800 Orphanet: 391677	PubMed

Showing 1 to 18 of 18 entries (filtered from 2,142 total entries)