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Advanced Download Gene List
  • IKBKG
    • Osteopetrosis And Related Disorders
    • Incontinentia Pigmenti
  • TTR
    • Hereditary Transthyretin Amyloidosis
    • Fabry Disease
  • GLA
    • Fabry Disease
    • Gaucher Disease
  • PORCN
    • Focal Dermal Hypoplasia
  • SALL4
    • Duane-Radial Ray Syndrome
  • COL2A1
    • Collagen, Type Ii, Alpha-1
    • Osteopetrosis And Related Disorders
  • CREBBP
    • Rubinstein-Taybi Syndrome
  • DOCK6
    • Cutis Marmorata
    • Adams-Oliver Syndrome
  • GBA
    • Gaucher Disease
  • NOTCH1
    • Cutis Marmorata
    • Adams-Oliver Syndrome
    • Cutis Marmorata Telangiectatica Congenita
    • Malignant Peripheral Nerve Sheath Tumor
    • Hereditary Transthyretin Amyloidosis
    • Fabry Disease
  • ARHGAP31
    • Cutis Marmorata
    • Adams-Oliver Syndrome
  • WNT5A
    • Ror2-Related Robinow Syndrome
  • TTN
    • Salih Myopathy
    • Arrhythmogenic Right Ventricular Cardiomyopathy
  • FBN1
    • Cutis Marmorata
    • Shprintzen-Goldberg Syndrome
    • Hereditary Transthyretin Amyloidosis
    • Aneurysm
  • SKI
    • Shprintzen-Goldberg Syndrome
  • EOGT
    • Cutis Marmorata
    • Adams-Oliver Syndrome
  • DLL4
    • Cutis Marmorata
    • Adams-Oliver Syndrome
    • Bronchopulmonary Dysplasia
  • TEK
    • Multiple Cutaneous And Mucosal Venous Malformations
  • ENPP1
    • Generalized Arterial Calcification Of Infancy
  • COL4A3
    • Alport Syndrome

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