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CTGA Database Listing
Arab Genomic Studies
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  • Hyperekplexia 2
    OMIM # 614619
    HKPX2
  • Chiari Malformation Type I
    OMIM # 118420
    CM1, Chiari Malformation Type I with Syringomyelia, CM1 with Syringomyelia
  • Glaucoma 3, Primary Congenital, A
    OMIM # 231300
    GLC3A, Glaucoma, Congenital, GLC3, Buphthalmos
  • Nephrocystin 1
    OMIM # 607100
    NPHP1, NPH1
  • Bruck Syndrome 1
    OMIM # 259450
    BRKS1, Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome, Kuskokwim Disease, Arthrogryposis-Like Disorder,
  • Lymphedema-Distichiasis Syndrome
    OMIM # 153400
    Lymphedema with Distichiasis, Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 11
    OMIM # 600937
    KCNJ11, Potassium Channel, Inwardly Rectifying, BIR Subunit, Beta-Cell Inward Rectifier Subunit, BIR, Inwardly Rectifying Potassium Channel Kir6.2
  • Hyperinsulinemic Hypoglycemia, Familial, 2
    OMIM # 601820
    HHF2, Persistent Hyperinsulinemic Hypoglycemia of Infancy, PHHI, Hyperinsulinemic Hypoglycemia, Persistent, Hyperinsulinemic Hypoglycemia due to Focal Adenomatous Hyperplasia, Hyperinsulinism, Neonatal, Hyperinsulinism, Congenital, Hyperinsulinism, Familial, Nesidioblastosis, Autosomal Recessive Hyperinsulinism due to Kir6.2 Deficiency, Autosomal Recessive Hyperinsulinemic Hypoglycemia due to Kir6.2 Deficiency
  • L-2-Hydroxyglutarate Dehydrogenase
    OMIM # 609584
    L2HGDH, DURANIN, C14ORF160
  • Hemophilia B
    OMIM # 306900
    HEMB , Christmas Disease, Factor IX Deficiency, F9 Deficiency, Plasma Thromboplastin Component Deficiency, Hemophilia B(M), Hemophilia B Leyden
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