DRED IDNameOMIMRepeat UnitRepeat LocationGene
RD00033Jacobsen Syndrome147791CCG5' UTRCBL
RD00034Fragile X Tremor/ataxia Syndrome300623CGG5' UTRFMR1
RD00035Fragile X Mental Retardation Syndrome300624CGG5' UTRFMR1
RD00036Oculopharyngodistal Myopathy 2618940CGG5' UTRGIPC1
RD00037Premature Ovarian Failure 1311360CGG5' UTRFMR1
RD00038Mental retardation, FRA12A type136630CGG5' UTRDIP2B
RD00039Oculopharyngodistal Myopathy164310CGG5' UTRLRP12
RD00040Neuronal Intranuclear Inclusion Disease603472CGG5' UTRNOTCH2NLC
RD00041Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine618412GCA5' UTRGLS
RD00042Robin Sequence with Cleft Mandible and Limb Anomalies268305TCGGCAGCGG(CA/G)CAGCGAGG5' UTREIF4A3
RD00043Myotonic Dystrophy 1160900CTG3' UTRDMPK
RD00044Huntington Disease-Like 2606438CTG3' UTRJPH3
RD00045Oculopharyngeal Myopathy with Leukoencephalopathy618637CCGexonNUTM2B-AS1
RD00046Oculopharyngeal Myopathy with Leukoencephalopathy618637CGGexonLOC642361
RD00047Spinocerebellar Ataxia 8608768CTGexonATXN8OS
RD00048Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome614575AAGGGintronRFC1

© 2024 Database of repeat expansion diseases.
Data collected by OmicsLab, IGDB, CAS. All rights reserved.

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