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CTGA Database Listing
Arab Genomic Studies
Records found: 2477 Sort by:
  • Carbonic Anhydrase II
    OMIM # 611492
    CA2, Carbonic Anhydrase B, Carbonic Anhydrase C,
  • Mucopolysaccharidosis Type VII
    OMIM # 253220
    MPS VII, MPS7, Sly Syndrome, Beta-Glucuronidase Deficiency, GUSB Deficiency
  • Beta-Glucuronidase (*)
    OMIM # 611499
    GUSB
  • Microcephaly, Primary Autosomal Recessive, 1
    OMIM # 251200
    MCPH1
  • MCPH1 Gene (*)
    OMIM # 607117
    MCPH1, Microcephalin, BRCT-Repeat Inhibitor of TERT Expression 1, BRIT1
  • Maple Syrup Urine Disease
    OMIM # 248600
    MSUD, Branched-Chain Ketoaciduria, Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency, BCKD Deficiency, Keto Acid Decarboxylase Deficiency, Maple Syrup Urine Disease, Classic, Maple Syrup Urine Disease, Intermediate, Maple Syrup Urine Disease, Intermittent, Maple Syrup Urine Disease, Thiamine-Responsive, Maple Syrup Urine Disease, E3-Deficient, with Lactic Acidosis, Maple Syrup Urine Disease, Type Ia, MSUD1a, Maple Syrup Urine Disease, Type Ib, MSUD1b, Maple Syrup Urine Disease, Type II, MSUD2, Maple Syrup Urine Disease, Type III, MSUD3, Lipoamide Dehydrogenase Deficiency, Lactic Acidosis due to, Lactic Acidosis, Congenital Infantile, due to LAD Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, DLD Deficiency
  • Dihydrolipoamide Branched-Chain Transacylase
    OMIM # 248610
    DBT, Branched-Chain Acyltransferase, E2 Component , BCATE2, Branched-Chain Keto Acid Dehydrogenase Complex, E2 Component
  • Dihydrolipoamide Dehydrogenase Deficiency
    OMIM # 246900
    DLDD, DLD Deficiency, E3 Deficiency, Lipoamide Dehydrogenase Deficiency, Lactic Acidosis due to, Maple Syrup Urine Disease, Type III,
  • Dihydrolipoamide Dehydrogenase
    OMIM # 238331
    DLD, Pyruvate Dehydrogenase Component E3, PHE3, E3, Branched Chain Alpha-Keto Acid Dehydrogenase Complex, E3 Component, Lipoamide Reductase, Lipoamide Dehydrogenase, LAD, Lipoyl Dehydrogenase, Dihydrolipoyl Dehydrogenase, Diaphorase, Glycine Cleavage System L Protein, GCSL,
  • Succinyl-CoA:3-Oxoacid-CoA Transferase Deficiency (*)
    OMIM # 245050
    SCOTD, SCOT Deficiency, Succinyl-CoA:3-Ketoacid CoA-Transferase Deficiency, Succinyl-CoA:Acetoacetate Transferase Deficiency, Ketoacidosis due to SCOT Deficiency
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