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CTGA Database Listing
Arab Genomic Studies
Records found: 2872 Sort by:
  • Thanatophoric Dysplasia, Type I
    OMIM # 187600
    TD, TD1, Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type, Platyspondylic Lethal Skeletal Dysplasia, San Diego Type, Thanatophoric Dwarfism, Thanatophoric Dysplasia
  • Fibroblast Growth Factor Receptor 3
    OMIM # 134934
    FGFR3
  • RB Transcriptional Corepressor 1
    OMIM # 614041
    RB1, p105-Rb
  • Epileptic Encephalopathy, Early Infantile, 38
    OMIM # 617020
    EIEE38
  • Insensitivity to Pain, Congenital, with Anhidrosis
    OMIM # 256800
    CIPA, Neuropathy, Congenital Sensory, with Anhidrosis, Hereditary Sensory and Autonomic Neuropathy IV; HSAN4, HSAN IV, Familial Dysautonomia, Type II,
  • Niemann-Pick Disease, Type C1
    OMIM # 257220
    NPC1, Niemann-Pick Disease, Type C, NPC, Niemann-Pick Disease with Cholesterol Esterification Block, Niemann-Pick Disease, Subacute Juvenile Form, Niemann-Pick Disease, Chronic Neuronopathic Form, Niemann-Pick Disease without Sphingomyelinase Deficiency, Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia, Niemann-Pick Disease, Type D, Niemann-Pick Disease, Nova Scotian Type,
  • Hyperoxaluria, Primary, Type I
    OMIM # 259900
    HP1, Oxalosis I, Glycolic Aciduria, Alanine-Glyoxylate Aminotransferase Deficiency, Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency, Hepatic AGT Deficiency, Serine:Pyruvate Aminotransferase Deficiency
  • Schizencephaly
    OMIM # 269160
  • Partner and Localizer of BRCA2
    OMIM # 610355
    PALB2, FANCN Gene, FANCN,
  • 17-Beta Hydroxysteroid Dehydrogenase III
    OMIM # 605573
    HSD17B3, 17-Beta-HSD III, Estradiol 17-Beta-Dehydrogenase, EDH17b3, Testicular 17-Beta-Hydroxysteroid Dehydrogenase III
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