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CTGA Database Listing
Arab Genomic Studies
Records found: 2478 Sort by:
  • Tay-Sachs Disease
    OMIM # 272800
    TSD, Gangliosidosis, Type I, B Variant GM2-Gangliosidosis, Hexosaminidase A Deficiency, HEXA Deficiency, Tay-Sachs Disease, Juvenile, Hexosaminidase A Deficiency, Adult Type, GM2-Gangliosidosis, Adult Chronic Type, Tay-Sachs Disease, Variant B1, Tay-Sachs Disease, Pseudo-AB Variant
  • Lipodystrophy, Congenital Generalized, Type 2
    OMIM # 269700
    CGL2, Berardinelli-Seip Congenital Lipodystrophy Type 2, Seip Syndrome, Berardinelli Syndrome, Lipodystrophy, Total, and Acromegaloid Gigantism, Congenital Lipoatrophic Diabetes, Lipodystrophy, Berardinelli-Seip Congenital Type 2, Brunzell Syndrome, Brunzell Syndrome, BSCL2-Related
  • BSCL2 Gene
    OMIM # 606158
    BSCL2 , Seipin, GNG3LG, Mouse, Homolog of,
  • Hexosaminidase B
    OMIM # 606873
    HEXB, ENC1, Antisense, ENC1AS
  • Sandhoff Disease
    OMIM # 268800
    GM2-Gangliosidosis, Type II, Hexosaminidases A and B Deficiency, Sandhoff Disease, Adult Type, Sandhoff Disease, Juvenile Type, Sandhoff Disease, Infantile Type
  • RECQ Protein-Like 4
    OMIM # 603780
    RECQL4, DNA Helicase, RECQ-Like, Type 4, RECQ4
  • Rothmund-Thomson Syndrome
    OMIM # 268400
    RTS, Poikiloderma Atrophicans and Cataract
  • Cohen Syndrome
    OMIM # 216550
    COH1, CHH1, Hypotonia Obesity and Prominent Incisors, Pepper Syndrome, CHS1
  • Retinopathy, Pigmentary, and Mental Retardation
    OMIM # 268050
    Mirhosseini-Holmes-Walton Syndrome,
  • Vacuolar Protein Sorting 13, Yeast, Homolog of, B
    OMIM # 607817
    VPS13B, COH1 Gene, COH1, KIAA0532, ,
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