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Advanced Download Gene List
  • PORCN
    • Focal Dermal Hypoplasia
  • UROS
    • Congenital Erythropoietic Porphyria
  • TTR
    • Hereditary Transthyretin Amyloidosis
    • Fabry Disease
  • GLA
    • Fabry Disease
  • PTCH1
    • Nevoid Basal Cell Carcinoma Syndrome
  • SUFU
    • Nevoid Basal Cell Carcinoma Syndrome
  • RASA1
    • Capillary Malformation-Arteriovenous Malformation Syndrome
    • Lymphangioma
    • Usual Interstitial Pneumonia
  • PTCH2
    • Nevoid Basal Cell Carcinoma Syndrome
  • SKI
    • Shprintzen-Goldberg Syndrome
  • TTN
    • Salih Myopathy
  • COL4A5
    • Usual Interstitial Pneumonia
    • Alport Syndrome
  • ENPP1
    • Generalized Arterial Calcification Of Infancy
  • COL4A3
    • Alport Syndrome
  • LIPA
    • Lysosomal Acid Lipase Deficiency
  • ABCC6
    • Generalized Arterial Calcification Of Infancy
  • GATA1
    • Congenital Erythropoietic Porphyria
  • NOS3
    • Fabry Disease
    • Pulmonary Edema
  • FBN1
    • Pterygium Of The Conjunctiva And Cornea
    • Shprintzen-Goldberg Syndrome
    • Hereditary Transthyretin Amyloidosis
  • AP3D1
    • Albinism
  • VEGFA
    • Callosity
    • Pterygium Of The Conjunctiva And Cornea
    • Usual Interstitial Pneumonia
    • Hereditary Transthyretin Amyloidosis
    • Fabry Disease
    • Pulmonary Edema

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