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CTGA Database Listing
Arab Genomic Studies
Records found: 2535 Sort by:
  • Femoral-Facial Syndrome
    OMIM # 134780
    FFS, Femoral Hypoplasia-Unusual Facies Syndrome, FHUFS,
  • Exudative Vitreoretinopathy 1
    OMIM # 133780
    EVR1, Exudative Vitreoretinopathy, Familial, Autosomal Dominant, FEVR, Autosomal Dominant, Criswick-Schepens Syndrome, Retinopathy of Prematurity, ROP
  • Ewing Sarcoma Breakpoint Region 1
    OMIM # 133450
    EWSR1, EWS Gene, EWS, Ewing Sarcoma, ES, Neuroepithelioma, Peripheral, PNE, Askin Tumor, Esthesioneuroblastoma, EWS/FEV Fusion Gene, EWS/ZNF278 Fusion Gene, EWS/FLI1 Fusion Gene, EWS/ATF1 Fusion Gene, EWS/ERG Fusion Gene, EWS/WT1 Fusion Gene, EWS/CREB1 Fusion Gene, EWS/NR4A3 Fusion Gene, EWS/POU5F1 Fusion Gene, EWS/ETV1 Fusion Gene, EWS/ETV4 Fusion Gene
  • Esophageal Cancer
    OMIM # 133239
    Esophageal Squamous Cell Carcinoma, ESCC
  • Erythrokeratodermia Variabilis et Progressiva 1
    OMIM # 133200
    EKVP1, Erythrokeratodermia Variabilis Progressiva, EKVP, Erythrokeratodermia Variabilis, EKV, Erythrokeratodermia Figurata, Congenital Familial, in Plaques, Erythrokeratodermia Variabilis with Erythema Gyratum Repens, Greither Disease, Keratosis Palmoplantaris Transgrediens et Progrediens
  • Cylindromatosis, Familial
    OMIM # 132700
    CYLD, Ancell-Spiegler Cylindromas, Turban Tumor Syndrome, Cylindromas, Dermal Eccrine, Turban Tumors
  • Multiple Endocrine Neoplasia, Type I
    OMIM # 131100
    MEN1, MEN I, Endocrine Adenomatosis, Multiple, MEA I, Wermer Syndrome, MEN1 Somatic Mutations
  • Emphysema, Congenital Lobar
    OMIM # 130710
    CLE, Congenital Pulmonary Emphysema, Emphysema, Localized Congenital, Lobar Emphysema, Infantile, Lobar Tension Emphysema in Infancy
  • Thrombophilia
    OMIM # 188050
    Thrombophilia due to thrombin defect, THPH1, Thrombophilia due to factor 2 defect, Venous thrombosis, Venous Thromboembolism, VTE,
  • 5,10-@Methylenetetrahydrofolate Reductase
    OMIM # 607093
    MTHFR
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