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CTGA Database Listing
Arab Genomic Studies
Records found: 2828 Sort by:
  • Tay-Sachs Disease
    OMIM # 272800
    TSD, Gangliosidosis, Type I, B Variant GM2-Gangliosidosis, Hexosaminidase A Deficiency, HEXA Deficiency, Tay-Sachs Disease, Juvenile, Hexosaminidase A Deficiency, Adult Type, GM2-Gangliosidosis, Adult Chronic Type, Tay-Sachs Disease, Variant B1, Tay-Sachs Disease, Pseudo-AB Variant
  • Leukodystrophy, Hypomyelinating, 10
    OMIM # 616420
    HLD10
  • Pyrroline-5-Carboxylate Reductase 2
    OMIM # 616406
    PYCR2
  • 5,10-@Methylenetetrahydrofolate Reductase
    OMIM # 607093
    MTHFR
  • Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity
    OMIM # 236250
    Methylenetetrahydrofolate Reductase Deficiency, MTHFR Deficiency, MTHFR Deficiency, Thermolabile Type
  • Twinkle mtDNA Helicase
    OMIM # 606075
    TWNK, Chromosome 10 Open Reading Frame 2, C10ORF2, T7 Gene 4-Like Protein with Intramitochondrial Nucleoid Localization, Twinkle, p72
  • Mitochondrial DNA Depletion Syndrome 7 (Hepatocerebral Type)
    OMIM # 271245
    MTDPS7, Spinocerebellar Ataxia, Infantile-Onset, IOSCA, Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, and Athetosis, OHAHA Syndrome, Spinocerebellar Ataxia, Infantile. with Sensory Neuropathy, Spinocerebellar Ataxia 8, SCA8
  • Succinate Dehydrogenase Complex, Subunit A, Flavoprotein
    OMIM # 600857
    SDHA, Succinate Dehydrogenase 1, S. cerevisiae, Homolog of, SDH1, Homolog of
  • Pyruvate Dehydrogenase, Alpha-1
    OMIM # 300502
    PDHA1, Pyruvate Dehydrogenase Complex, E1-Alpha Polypeptide 1; PHE1A, PDHCE1A, PDHA
  • Pyruvate Dehydrogenase E1-Alpha Deficiency
    OMIM # 312170
    PDHAD, Pyruvate Dehydrogenase Complex Deficiency, Pyruvate Decarboxylase Deficiency, Ataxia, Intermittent, with Abnormal Pyruvate Metabolism, PDH Deficiency, Ataxia, Intermittent, with Pyruvate Dehydrogenase Deficiency, Ataxia, with Lactic Acidosis I,
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