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Advanced Download Gene List
  • TGFBR2
    • Cutis Marmorata
    • Adams-Oliver Syndrome
    • Uterine Rupture
    • Shprintzen-Goldberg Syndrome
    • Aneurysm
    • Loeys-Dietz Syndrome
  • TGFBR1
    • Cutis Marmorata
    • Adams-Oliver Syndrome
    • Uterine Rupture
    • Shprintzen-Goldberg Syndrome
    • Loeys-Dietz Syndrome
  • IKBKG
    • Osteopetrosis And Related Disorders
    • Incontinentia Pigmenti
  • TTR
    • Hereditary Transthyretin Amyloidosis
    • Fabry Disease
  • GLA
    • Fabry Disease
  • PORCN
    • Focal Dermal Hypoplasia
  • SALL4
    • Duane-Radial Ray Syndrome
  • TGFB2
    • Cutis Marmorata
    • Loeys-Dietz Syndrome
  • SMARCAL1
    • Schimke Immunoosseous Dysplasia
  • FBN1
    • Cutis Marmorata
    • Shprintzen-Goldberg Syndrome
    • Hereditary Transthyretin Amyloidosis
    • Aneurysm
    • Loeys-Dietz Syndrome
  • SMAD3
    • Cutis Marmorata
    • Adams-Oliver Syndrome
    • Aneurysm
    • Loeys-Dietz Syndrome
  • CREBBP
    • Rubinstein-Taybi Syndrome
  • DOCK6
    • Cutis Marmorata
    • Adams-Oliver Syndrome
  • NOTCH1
    • Cutis Marmorata
    • Adams-Oliver Syndrome
    • Cutis Marmorata Telangiectatica Congenita
    • Malignant Peripheral Nerve Sheath Tumor
    • Hereditary Transthyretin Amyloidosis
    • Fabry Disease
    • Schimke Immunoosseous Dysplasia
  • WNT5A
    • Ror2-Related Robinow Syndrome
  • ARHGAP31
    • Cutis Marmorata
    • Adams-Oliver Syndrome
  • TREX1
    • Cutis Marmorata
    • Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
  • TTN
    • Salih Myopathy
    • Arrhythmogenic Right Ventricular Cardiomyopathy
  • SKI
    • Shprintzen-Goldberg Syndrome
  • EOGT
    • Cutis Marmorata
    • Adams-Oliver Syndrome

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