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CTGA Database Listing
Arab Genomic Studies
Records found: 2810 Sort by:
  • 3-@Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase
    OMIM # 607764
    HSD3B7
  • Bile Acid Synthesis Defect, Congenital, 1
    OMIM # 607765
    CBAS1, 3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency
  • T-Box Transcription Factor 19
    OMIM # 604614
    TBX19, T-Box 19, T-Box Factor, Pituitary, TPIT,
  • ACTH Deficiency, Isolated
    OMIM # 201400
    ACTHD, Adrenocorticotropic Hormone Deficiency
  • Urocanase Deficiency
    OMIM # 276880
    UROCD, Urocanic Aciduria
  • Urocanase Domain-Containing Protein 1
    OMIM # 613012
    UROC1, Urocanase
  • Sulfatase-Modifying Factor 1
    OMIM # 607939
    SUMF1, C-Alpha-Formylglycine-Generating Enzyme FGE, FGLY-Generating Enzyme
  • Multiple Sulfatase Deficiency
    OMIM # 272200
    MSD, Mucosulfatidosis , Sulfatidosis, Juvenile, Austin Type
  • Sandhoff Disease
    OMIM # 268800
    GM2-Gangliosidosis, Type II, Hexosaminidases A and B Deficiency, Sandhoff Disease, Adult Type, Sandhoff Disease, Juvenile Type, Sandhoff Disease, Infantile Type
  • Hexosaminidase A
    OMIM # 606869
    Beta-Hexosaminidase A, HEXA
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