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CTGA Database Listing
Arab Genomic Studies
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  • Anterior Segment Dysgenesis 7 (*)
    OMIM # 269400
    ASGD7, Corneal Opacification With Other Ocular Anomalies, COPOA, Sclerocornea with Other Ocular Anomalies
  • Osteopetrosis, Autosomal Recessive 3
    OMIM # 259730
    OPTB3, Osteopetrosis with Renal Tubular Acidosis, Carbonic Anhydrase II Deficiency, Guibaud-Vainsel Syndrome, Marble Brain Disease
  • 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,
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