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CTGA Database Listing
Arab Genomic Studies
Records found: 2791 Sort by:
  • Spinocerebellar Ataxia, Autosomal Recessive 2
    OMIM # 213200
    SCAR2, Cerebelloparenchymal Disorder III, CPD III, CPD3, Cerebellar Hypoplasia, Nonprogressive Norman Type, Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital
  • Peptidase, Mitochondrial Processing, Alpha
    OMIM # 613036
    PMPCA , Mitochondrial Processing Peptidase-Alpha , KIAA0123
  • Serine/Threonine Protein Kinase 36
    OMIM # 607652
    STK36, Fused, Drosophila, Homolog of, FU, KIAA1278
  • Temple-Baraitser Syndrome
    OMIM # 611816
    TMBTS, Mental Retardation, Severe, and Absent Nails of Hallux and Pollex
  • Potassium channel, Voltage-Gated, Subfamily H, Member 1
    OMIM # 603305
    KCNH1, Kv10.1, Ether-A-G0-G0, Drosophila, Homolog of, EAG,
  • Paired-Like Homeobox 2B
    OMIM # 603851
    PHOX2B, Paired Mesoderm Homeobox 2b, PMX2B, Neuroblastoma Paired-Type Homeobox Gene, NBPHOX
  • Central Hypoventilation Syndrome, Congenital
    OMIM # 209880
    CCHS, Autonomic Control, Congenital Failure of, Ondine Curse, Congenital, Ondine-Hirschsprung Disease, Included, OHD, Included, CCHS with Hirschsprung Disease, Included, Haddad Syndrome, Included
  • Glucosidase, Beta, Acid
    OMIM # 606463
    GBA, GBA1, Acid Beta-Glucosidase, Beta-Glucosidase, Acid, Beta-GC; Glucocerebrosidase, Glucosylceramidase
  • Gaucher Disease, Type I
    OMIM # 230800
    GD I, Gaucher Disease, Noncerebral Juvenile, Glucocerebrosidase Deficiency, Acid Beta-Glucosidase Deficiency, GBA Deficiency,
  • Pitt-Hopkins Syndrome
    OMIM # 610954
    PTHS, Encephalopathy, Severe Epileptic, with Autonomic Dysfunction, Mental Retardation, Syndromal with intermittent Hyperventilation
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