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CTGA Database Listing
Arab Genomic Studies
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  • Insulin Receptor
    OMIM # 147670
    INSR
  • Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities
    OMIM # 262190
    Rabson-Mendenhall Syndrome, Mendenhall Syndrome,
  • Polycystic Kidney Disease 4 with or without Polycystic Liver Disease
    OMIM # 263200
    PKD4, Polycystic Kidney Disease 4 with or without Hepatic Disease, Polycystic Kidney Disease, Autosomal Recessive, ARPKD, Polycystic Kidney and Hepatic Disease 1, PKHD1, Polycystic Kidney Disease, Infantile, Type I, PKD3
  • Pseudovaginal Perineoscrotal Hypospadias
    OMIM # 264600
    PPSH, Male Pseudohermaphroditism due to 5-Alpha-Reductase Deficiency, Familial Incomplete Male Pseudohermaphroditism, Type 2, 5-Alpha-Reductase 2 Deficiency
  • Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit
    OMIM # 601573
    EZH2, Enhancer of Zeste, Drosophila, Homolog 2, ENX1
  • Pulmonary Hypoplasia, Primary
    OMIM # 265430
  • Epilepsy, Pyridoxine Dependent
    OMIM # 266100
    EPD, Pyridoxine-Dependent Epilepsy, PDE, Pyridoxine Dependency with Seizures, AASA Dehydrogenase Deficiency
  • Robinow Syndrome, Autosomal Recessive
    OMIM # 268310
    RRS, Costovertebral Segmentation Defect with Mesomelia, Covesdem Syndrome
  • Perforin 1
    OMIM # 170280
    PRF1, PFN1, Pore-Forming Protein, PFP
  • BUB1 Mitotic checkpoint Serine/Threonine Kinase B
    OMIM # 602860
    BUB1B, Budding Uninhibiting by Benzimidazoles 1, S. cerevisiae, Homolog of, Beta, BUB1, S. cerevisiae, Homolog of, Beta, Mitotic Checkpoint Gene BUB1B, BUBR1
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