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CTGA Database Listing
Arab Genomic Studies
Records found: 2477 Sort by:
  • 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
  • 3-Oxoacid CoA Transferase 1 (*)
    OMIM # 601424
    OXCT1, OXCT, Succinyl-CoA:3-Oxoacid-CoA Transferase, SCOT
  • Cholestasis, Progressive Familial Intrahepatic, 1
    OMIM # 211600
    PFIC1, Byler Disease, Cholestasis, Fatal Intrahepatic
  • ATPase, Class I, Type 8B, Member 1
    OMIM # 602397
    ATP8B1, FIC Gene 1, FIC1
  • Dubin-Johnson Syndrome
    OMIM # 237500
    DJS, Hyperbilirubinemia II
  • ATP-Binding Cassette, Subfamily C, Member 2 (*)
    OMIM # 601107
    ABCC2, Multispecific Organic Anion Transporter, Canalicular, CMOAT, Multidrug Resistance-Associated Protein 2, MRP2,
  • Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1
    OMIM # 236670
    MDDGA1, Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, POMT1-Related, Hydrocephalus, Agyria, and Retinal Dysplasia, HARD Syndrome, Cerebroocular Dysplasia-Muscular Dystrophy Syndrome, COD-MD Syndrome
  • Protein O-Mannosyltransferase 1 (*)
    OMIM # 607423
    POMT1, Rotated Abdomen, Drosophila, Homolog of, RT
  • Cystinuria
    OMIM # 220100
    Cystinuria, Type I, Cystinuria, Type I, Formerly, CSNU1, Formerly, Cystinuria, Type II, Formerly, Cystinuria, Type III, Formerly, CSNU3, Formerly, Cystinuria, Type Non-I, Formerly, Cystinuria, Type A , Cystinuria, Type B, Cystinuria, Type A/B,
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