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Advanced Download Gene List
  • TGFBR2
    • Uterine Rupture
    • Shprintzen-Goldberg Syndrome
    • Aneurysm
    • Loeys-Dietz Syndrome
    • Loeys–dietz Syndrome
  • TGFBR1
    • Uterine Rupture
    • Shprintzen-Goldberg Syndrome
    • Loeys-Dietz Syndrome
    • Loeys–dietz Syndrome
  • TGFB2
    • Loeys-Dietz Syndrome
    • Hereditary Hemorrhagic Telangiectasia
    • Loeys–dietz Syndrome
  • PORCN
    • Focal Dermal Hypoplasia
    • Omphalocele
  • SMAD3
    • Aneurysm
    • Loeys-Dietz Syndrome
    • Beckwith-Wiedemann Syndrome
    • Loeys–dietz Syndrome
  • TTR
    • Hereditary Transthyretin Amyloidosis
    • Fabry Disease
  • GLA
    • Fabry Disease
    • Gaucher Disease
    • Familial Dysautonomia
  • ENG
    • Bronchopulmonary Dysplasia
    • Hereditary Hemorrhagic Telangiectasia
  • SALL4
    • Duane-Radial Ray Syndrome
  • SMARCAL1
    • Schimke Immunoosseous Dysplasia
  • ELP1
    • Familial Dysautonomia
  • CDKN1C
    • Beckwith-Wiedemann Syndrome
    • Omphalocele
  • CREBBP
    • Rubinstein-Taybi Syndrome
  • GBA
    • Gaucher Disease
  • TGFB3
    • Arrhythmogenic Right Ventricular Cardiomyopathy
    • Loeys-Dietz Syndrome
    • Loeys–dietz Syndrome
  • WNT5A
    • Ror2-Related Robinow Syndrome
  • FBN1
    • Shprintzen-Goldberg Syndrome
    • Hereditary Transthyretin Amyloidosis
    • Aneurysm
    • Loeys-Dietz Syndrome
  • TAF1
    • X-Linked Dystonia-Parkinsonism
  • ABCC9
    • Cantú Syndrome
  • TAZ
    • Barth Syndrome

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