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CTGA Database Listing
Arab Genomic Studies
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  • Neurodegeneration with Brain Iron Accumulation 2A
    OMIM # 256600
    NBIA2A, Neurodegenration, PLA2G6-Associated, PLAN, Neuroaxonal Dystrophy, Infantile, INAD, INAD1, Seitelberger Disease
  • Glycogen Storage Disease IV
    OMIM # 232500
    GSD IV, GSD4, Glycogen Branching Enzyme Deficiency, GBE1 Deficiency, Andersen Disease, Brancher Deficiency, Glycogenosis IV, Amylopectinosis, Cirrhosis, Familial, with Deposition of Abnormal Glycogen, GSD IV, Classic Hepatic, GSD IV, Nonprogressive Hepatic, GSD IV, Neuromuscular Form, Fatal Perinatal, GSD IV, Neuromuscular Form, Congenital, GSD IV, Neuromuscular Form, Childhood, GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy
  • Glycogen Branching Enzyme
    OMIM # 607839
    GBE1, GBE, 1,4-Alpha-Glucan Branching Enzyme, Amylo-(1,4 to 1,6) Transglucosidase, Amylo-(1,4 to 1,6) Transglycosylase
  • Spastic Paraplegia 52, Autosomal Recessive
    OMIM # 614067
    SPG52, Cerebral Palsy, Spastic Quadriplegic, 6, CPSQ6
  • Adaptor-Related Protein Complex 4, Sigma-1 Subunit
    OMIM # 607243
    AP4S1
  • Rhizomelic Chondrodysplasia Punctata, Type 1
    OMIM # 215100
    RCDP1, Chondrodysplasia Punctata, Rhizomelic Form, CDPR, Chondrodystrophia Calcificans Punctata, PTS2 Deficiency, Alkylglycerone Phosphate Synthase Deficiency,
  • Peroxisome Biogenesis Factor 7
    OMIM # 601757
    OEX7, Peroxin 7, Peroxisomal PTS2 Receptor
  • CD27 Antigen
    OMIM # 186711
    CD27, Tumor Necrosis Factor Receptor Superfamily, Member 7, TNFRSF7, T-Cell Activation Antigen S152, S152
  • Lymphoproliferative Syndrome 2
    OMIM # 615122
    LPFS2, CD27 Deficiency,
  • Fructose Intolerance, Hereditary
    OMIM # 229600
    Fructosemia, Fructose-1-Phosphate Aldolase Deficiency, Fructose-1,6-BisphosphateI Aldolase B Deficiency, Aldolase B Deficiency, ALDOB Deficiency
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