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Advanced Download Gene List
  • TBX5
    • Holt–oram Syndrome
    • Pectus Excavatum
  • TGFBR2
    • Uterine Rupture
    • Aneurysm
    • Loeys–dietz Syndrome
    • Dural Arteriovenous Fistula
    • Pectus Excavatum
  • LIPA
    • Lysosomal Acid Lipase Deficiency
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • TGFBR1
    • Uterine Rupture
    • Loeys–dietz Syndrome
    • Pectus Excavatum
  • PQBP1
    • Renpenning's Syndrome
    • Pectus Excavatum
  • FAM20A
    • Enamel-Renal Syndrome
  • IFIH1
    • Singleton Merten Syndrome
  • AGGF1
    • Klippel-Trenaunay-Weber Syndrome
  • TGFB2
    • Loeys–dietz Syndrome
    • Holt–oram Syndrome
  • ASS1
    • Citrullinemia Type I
  • SMAD3
    • Aneurysm
    • Loeys–dietz Syndrome
    • Pectus Excavatum
  • CTNS
    • Cystinosis
  • FAM155A
    • Diverticulitis
  • SMOC1
    • Klippel-Trenaunay-Weber Syndrome
    • Holt–oram Syndrome
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • FLNA
    • Pectus Excavatum
    • Intestinal Neuronal Dysplasia
  • SALL4
    • Holt–oram Syndrome
  • SOST
    • Klippel-Trenaunay-Weber Syndrome
    • Craniodiaphyseal Dysplasia
  • DDX58
    • Singleton Merten Syndrome

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