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CTGA Database Listing
Arab Genomic Studies
Records found: 2614 Sort by:
  • Neutral Lipid Storage Disease with Myopathy
    OMIM # 610717
    NLSDM, Neutral Lipid Storage Disease without Ichthyosis
  • Megaloblastic Anemia 1
    OMIM # 261100
    MGA1, Imerslund-Grasbeck Syndrome, IGS, Pernicious Anemia, Juvenile, due to Selective Intestinal Malabsorption of Vitamin B12, with Proteinuria, Enterocyte Cobalamin Malabsorption Enterocyte Intrinsic Factor Receptor, Defect of
  • Cubilin
    OMIM # 602997
    CUBN, Intrinsic Factor-Cobalamin Receptor, Intestinal Intrinsic Factor Receptor, IFCR
  • FYVE, RhoGEF and PH Domain-Containing Protein 4
    OMIM # 611104
    FGD4
  • Charcot-Marie-Tooth Disease, Type 4H
    OMIM # 609311
    CMT4H, Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4H, Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4H, Charcot-Marie-Tooth Neuropathy, Type 4H
  • Mitochondrial Complex III Deficiency, Nuclear Type 7
    OMIM # 615824
    MC3DN7,
  • Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 2
    OMIM # 614461
    UQCC2,
  • Knobloch Syndrome 1
    OMIM # 267750
    KNO1, KNO, Retinal Detachment and Occipital Encephalocele
  • Retinitis Pigmentosa
    OMIM # 268000
    RP
  • Retinopathy, Pigmentary, and Mental Retardation
    OMIM # 268050
    Mirhosseini-Holmes-Walton Syndrome,
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