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Advanced Download Gene List
  • FBN2
    • Congenital Contractural Arachnodactyly
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • PQBP1
    • Renpenning's Syndrome
  • MED12
    • Fg Syndrome
  • FAM20A
    • Enamel-Renal Syndrome
  • GALE
    • Galactose Epimerase Deficiency
  • HSD17B3
    • True Hermaphroditism
    • Disorders Of Sex Development
  • AVP
    • Diabetes Insipidus
  • IFIH1
    • Singleton Merten Syndrome
  • LHCGR
    • True Hermaphroditism
    • Disorders Of Sex Development
  • AKR1C3
    • True Hermaphroditism
    • Disorders Of Sex Development
  • AKR1C1
    • True Hermaphroditism
    • Disorders Of Sex Development
  • AKR1C2
    • True Hermaphroditism
    • Disorders Of Sex Development
  • CFH
    • Membranoproliferative Glomerulonephritis
  • FLNA
    • Intestinal Neuronal Dysplasia
    • Fg Syndrome
  • ASS1
    • Congenital Contractural Arachnodactyly
    • Citrullinemia Type I
  • TSLP
    • Membranoproliferative Glomerulonephritis
  • CTNS
    • Cystinosis
  • SLC4A4
    • Proximal Renal Tubular Acidosis
  • TGFBR2
    • Membranoproliferative Glomerulonephritis
    • Congenital Contractural Arachnodactyly
    • Uterine Rupture
    • Aneurysm

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