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CTGA Database Listing
Arab Genomic Studies
Records found: 2501 Sort by:
  • Heterotaxy, Visceral, 1, X-Linked
    OMIM # 306955
    HTX1, Dextrocardia with Other Cardiac Malformations, Laterality, X-Linked, Situs Inversus, Complex Cardiac Defects, and Splenic Defects, X-Linked, Congenital Heart Defects, Multiple Types, 1, X-Linked, CHTD1
  • Mannosephosphate Isomerase
    OMIM # 154550
    MPI, Phosphomannose Isomerase 1, PMI1, PMI
  • Congenital Disorder of Glycosylation, Type Ib
    OMIM # 602579
    CDG1B, CDG Ib, CDGIb, CDG, Gastrointestinal Type, Mannosephosphate Isomerase Deficiency, MPI Deficiency, Protein-Losing Enteropathy-Hepatic Fibrosis Syndrome, Saguenay-Lac Saint-Jean Syndrome, SLSJ Syndrome
  • Combined Oxidative Phosphorylation Deficiency 1
    OMIM # 609060
    COXPD1, Hepatoencephalopathy, Early fatal Progressive,
  • Mitochondrial Elongation Factor G1
    OMIM # 606639
    GFM1, Elongation Factor G1, EFG, EFG1, GFM,
  • Solute Carrier Family 52 (Riboflavin Transporter), Member 2
    OMIM # 607882
    SLC52A2, G Protein-Coupled Receptor 172A, GPR172A, G Protein-Coupled Receptor 41, GPCR41, Porcine Endogenous Retrovirus, Subgroup A, Receptor 1, PAR1, PERV-A Receptor 1, Riboflavin Transporter 3, RFT3, RFVT2, FLJ11856,
  • Brown-Vialetto-Van Laere Syndrome 2
    OMIM # 614707
    BVVLS2
  • Complement Component 3 Deficiency, Autosomal Recessive
    OMIM # 613779
    C3D, C3 Deficiency, Autosomal Recessive,
  • Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
    OMIM # 613320
    SMDMDM, Chondrodysplasia, Megarbane-Dagher-Melki Type,
  • Presequence Translocase-Associated Motor 16, S. cerevesiae, Homolog of
    OMIM # 614336
    PAM16, Mitochondria-Associated Granulocyte-Macrophage Colony-Stimulating Factor Signaling Molecule, MAGMAS,
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