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CTGA Database Listing
Arab Genomic Studies
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  • Wrinkly Skin Syndrome
    OMIM # 278250
    WSS
  • ATPase, H+ Transporting, Lysosomal, V0 Subunit A2
    OMIM # 611716
    ATP6V0A2, A2V-ATPase
  • Fabry Disease
    OMIM # 301500
    Angiokeratoma Corporis Diffusum, Anderson-Fabry Disease, Hereditary Dystopic Lipidosis, Alpha-Galactosidase A Deficiency, GLA Deficiency, Ceramide Trihexosidase Deficiency, Fabry Disease, Cardiac Variant
  • Galactosidase, Alpha
    OMIM # 300644
    GLA, Alpha-Galactosidase A, GALA
  • MASA Syndrome
    OMIM # 303350
    Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs, Clasped Thumb and Mental Retardation, Thumb, Congenital Clasped, with Mental Retardation, Adducted Thumb with Mental Retardation, Gareis-Mason Syndrome, Spastic Paraplegia Type 1, SPG1, Crash Syndrome,
  • L1 Cell Adhesion Molecule
    OMIM # 308840
    L1CAM, MIC5, Neural Cell Adhesion Molecule L1, CAML1,
  • Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
    OMIM # 604320
    DSMA1, Spinal Muscular Atrophy with Respiratory Distress 1, SMARD1, Neuronopathy, Distal Hereditary Motor, Type VI, DHMN6, HMN6, HMN VI, Severe Infantile Axonal Neuropathy with Respiratory Failure, SIANRF, Neuronopathy, Severe Infantile Axonal, with Repiratory Failure, Spinal Muscular Atrophy, Diaphragmatic
  • Receptor Expression-Enhancing Protein 1
    OMIM # 609139
    REEP1, Chromosome 2 Open Reading Frame 23, C2ORF23
  • Thiopurines, Poor Metabolism of, 1
    OMIM # 610460
    THPM1, Thiopurine S-Methyltransferase Deficiency', TPMTD, TPMT Deficiency
  • Thiopurine S-Methyltransferase
    OMIM # 187680
    TPMT
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