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Advanced Download Gene List
  • ABHD5
    • Cerebral Creatine Deficiency
  • GAMT
    • Guanidinoacetate Methyltransferase Deficiency
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • NGLY1
    • Ngly1 Deficiency
  • PQBP1
    • Motor Neuron Disease
    • Renpenning's Syndrome
  • FAM20A
    • Enamel-Renal Syndrome
  • MTHFR
    • Alopecia, Androgenetic, 1
    • Cervical Intraepithelial Neoplasia
    • Familial Isolated Vitamin E Deficiency
  • IFIH1
    • Hepatitis E
    • Singleton Merten Syndrome
  • SOD1
    • Cervical Intraepithelial Neoplasia
    • Motor Neuron Disease
  • AR
    • Alopecia, Androgenetic, 1
    • Cervical Intraepithelial Neoplasia
    • Motor Neuron Disease
  • ASS1
    • Citrullinemia Type I
  • SRD5A2
    • Alopecia, Androgenetic, 1
  • PRKAR1A
    • Alopecia, Androgenetic, 1
    • Enamel-Renal Syndrome
  • RB1
    • Pinealoblastoma
    • Cervical Intraepithelial Neoplasia
    • Trilateral Retinoblastoma
  • RSPO2
    • Alopecia, Androgenetic, 1
    • Tetra-Amelia Syndrome
  • ZFP36
    • Alopecia, Androgenetic, 1
    • Familial Isolated Vitamin E Deficiency
    • Vascular Tumor
  • PGM1
    • Ngly1 Deficiency
  • VEGFA
    • Alopecia, Androgenetic, 1
    • Cervical Intraepithelial Neoplasia
    • Motor Neuron Disease
  • DDX58
    • Hepatitis E
    • Singleton Merten Syndrome
  • PNPLA6
    • Motor Neuron Disease

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