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  • BRAF
    • Pilocytic Astrocytoma
    • Intraductal Papillary Mucinous Neoplasm
    • Telangiectasia, Hereditary Hemorrhagic, Type 1
    • Pleomorphic Xanthoastrocytoma
    • Congenital Contractural Arachnodactyly
    • Splenomegaly
    • Langerhans Cell Histiocytosis
  • KRAS
    • Pilocytic Astrocytoma
    • Intraductal Papillary Mucinous Neoplasm
    • Fibrolamellar Hepatocellular Carcinoma
    • Pleomorphic Xanthoastrocytoma
    • Congenital Contractural Arachnodactyly
    • Splenomegaly
  • ASL
    • Argininosuccinic Aciduria
  • ENG
    • Telangiectasia, Hereditary Hemorrhagic, Type 1
  • FBN2
    • Congenital Contractural Arachnodactyly
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • PMM2
    • Pmm2 Deficiency
  • GLMN
    • Glomuvenous Malformation
  • GALE
    • Galactose Epimerase Deficiency
    • Splenomegaly
  • DNAJC19
    • 3-Methylglutaconic Aciduria, Type V
  • PQBP1
    • Renpenning's Syndrome
  • TEK
    • Glomuvenous Malformation
    • Venous Malformations, Multiple Cutaneous And Mucosal
    • Congenital Contractural Arachnodactyly
  • FAM20A
    • Enamel-Renal Syndrome
  • TP53
    • Pilocytic Astrocytoma
    • Intraductal Papillary Mucinous Neoplasm
    • Fibrolamellar Hepatocellular Carcinoma
    • Pleomorphic Xanthoastrocytoma
    • Congenital Contractural Arachnodactyly
    • Splenomegaly
    • Langerhans Cell Histiocytosis
  • IFIH1
    • Singleton Merten Syndrome
  • NOTCH1
    • Pilocytic Astrocytoma
    • Congenital Contractural Arachnodactyly
    • Splenomegaly
    • Langerhans Cell Histiocytosis
  • NF1
    • Pilocytic Astrocytoma
    • Aneurysm
  • CFH
    • Membranoproliferative Glomerulonephritis
    • Enteritis
  • ACVRL1
    • Telangiectasia, Hereditary Hemorrhagic, Type 1
  • CTNS
    • Cystinosis
    • Splenomegaly

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