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CTGA Database Listing
Arab Genomic Studies
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  • Peroxisome Biogenesis Disorder 12A (Zellweger)
    OMIM # 614886
    Peroxisome Biogenesis Disorder, Complementation Group 14, CG14, Peroxisome Biogenesis Disorder, Complentation group J, CGJ
  • PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD
    OMIM # 312170
    PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY, PYRUVATE DECARBOXYLASE DEFICIENCY, ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM, PDH DEFICIENCY, ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY, ATAXIA WITH LACTIC ACIDOSIS I,
  • Pyruvate Dehydrogenase, Alpha-1
    OMIM # 300502
    PDHA1, Pyruvate Dehydrogenase Complex, E1-Alpha Polypeptide 1; PHE1A, PDHCE1A, PDHA
  • Transfer RNA, Mitochondrial, Alanine
    OMIM # 590000
    tRNA-ALA, Mitochondrial
  • KIF5C
    OMIM # 604593
    Kinesin, Heavy Chain, Neuron-Specific, 2, NKHC2
  • Spinocerebellar Ataxia 15
    OMIM # 606658
    SCA15, Spinocerebellar Ataxia 16, SCA16,
  • Inositol 1,4,5-Triphosphate Receptor, Type 1
    OMIM # 147265
    ITPR1, IP3R, IP3R1
  • Glycogen Storage Disease I
    OMIM # 232200
    GSD I, GSD1, Glycogen Storage Disease Ia, GSD1A, Von Gierke Disease, Hepatorenal Form of Glycogen Storage Disease, Glucose-6-Phosphatase Deficiency, Hepatorenal Glycogenosis, Glucose-6-Phosphatase, Catalytic, G6PC, Glucose-6-Phosphatase, Catalytic, 1, G6PC1, G6PT
  • Glucose-6-Phosphatase, Catalytic
    OMIM # 613742
    G6PC, Glucose-6-Phosphatase, Catalytic, 1, G6PC1, G6PT
  • Combined Oxidative Phosphorylation Deficiency 31
    OMIM # 617228
    COXPD31
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