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CTGA Database Listing
Arab Genomic Studies
Records found: 2744 Sort by:
  • Cytochrome P450, Subfamily IIC, Polypeptide 19
    OMIM # 124020
    CYP2C19, Mephenytoin 4-Prime-Hydroxylase, P450C2C, CYP2C,
  • Glutaric Acidemia I
    OMIM # 231670
    Glutaric Aciduria I, GA I, Glutaryl-CoA Dehydrogenase Deficiency, GDD
  • Alkaptonuria
    OMIM # 203500
    AKU, Homogentisic Acid Oxidase Deficiency,
  • Acetyl-CoA Acetyltransferase 1
    OMIM # 607809
    ACAT1, ACAT, Acetoacetyl-CoA Thiolase, Mitochondrial, T2, Mitochondrial Acetoacetyl-CoA Thiolase, MAT
  • 3-Methylglutaconic Aciduria, Type I
    OMIM # 250950
    MGA, Type I, MGA1, 3-@Methylglutaconyl-CoA Hydratase Deficiency, 3-MG-CoA-Hydratase Deficiency
  • Canavan Disease
    OMIM # 271900
    Canavan-van Bogaert-Bertrand Disease, Spongy Degeneration of Central Nervous System, Aspartoacylase Deficiency, ASPA Deficiency, ASP Deficiency, Aminoacylase 2 Deficiency, ACY2 Deficiency,
  • Propionic Acidemia
    OMIM # 606054
    Propionyl-CoA Carboxylase Deficiency, PCC Deficiency, Glycinemia, Ketotic, Hyperglycinemia with Ketoacidosis and Leukopenia, Ketotic Hyperglycinemia,
  • Methylmalonic Aciduria and Homocystinuria, cblC Type
    OMIM # 277400
    Methylmalonic Acidemia and Homocystinuria, cblC Type, Methylmalonic Aciduria and Homocystinuria, Vitamin B12-Responsive, Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-CoA Mutase and Homocysteine:Methyltetrahydrofolate Methyltransferase
  • Isovaleric Acidemia
    OMIM # 243500
    IVA, Isovaleric Acid CoA Dehydrogenase Deficiency, IVD Deficiency
  • Multiple Acyl-CoA Dehydrogenation Deficiency
    OMIM # 231680
    MADD, Glutaric Acidemia II, Glutaric Aciduria II, GA II, Ethylmalonic-Adipicaciduria, EMA, Glutaric Acidemia IIA, ETFA Deficiency, Glutaric Acidemia IIB, ETFB Deficiency, Glutaric Acidemia IIC, ETFDH Deficiency
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