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Displaying 20 of 209,107 results for " "
  1. NM_000132.3(F8):c.5122C>T (p.Arg1708Cys) AND FACTOR VIII (EAST HARTFORD)

    Type: Variation

    Species: human

  2. NM_000202.7(IDS):c.479C>G (p.Pro160Arg) AND Mucopolysaccharidosis, MPS-II

    Type: Variation

    Species: human

  3. NM_000166.5(GJB1):c.658C>T (p.Arg220Ter) AND X-linked hereditary motor and sensory neuropathy

  4. NM_000292.2(PHKA2):c.557G>A (p.Arg186His) AND Glycogen storage disease IXa2

    Type: Variation

    Species: human

  5. GPR143, 420G-A AND Ocular albinism, type I

    Type: Variation

    Species: human

  6. NM_000032.4(ALAS2):c.1702A>G (p.Ser568Gly) AND Hereditary sideroblastic anemia

    Type: Variation

    Species: human

  7. NM_000202.7(IDS):c.1327C>T (p.Arg443Ter) AND Mucopolysaccharidosis, MPS-II

  8. NM_006915.2(RP2):c.453C>G (p.Tyr151Ter) AND Retinitis pigmentosa 2

    Type: Variation

    Species: human

  9. NM_006915.2(RP2):c.353G>T (p.Arg118Leu) AND Retinitis pigmentosa 2

    Type: Variation

    Species: human

  10. NM_000202.7(IDS):c.349_351delTCC (p.Ser117del) AND Mucopolysaccharidosis, MPS-II

    Type: Variation

    Species: human

  11. NM_000032.4(ALAS2):c.1163C>G (p.Thr388Ser) AND Hereditary sideroblastic anemia

    Type: Variation

    Species: human

  12. NM_000202.7(IDS):c.509_510delCA (p.Thr170Metfs) AND Mucopolysaccharidosis, MPS-II

    Type: Variation

    Species: human

  13. RP2, 1-BP INS, 303T AND Retinitis pigmentosa 2

    Type: Variation

    Species: human

  14. NM_000292.2(PHKA2):c.3025C>T (p.Gln1009Ter) AND Glycogen storage disease type IXa1

    Type: Variation

    Species: human

  15. GPR143, 17-BP DEL AND Ocular albinism, type I

    Type: Variation

    Species: human

  16. GJB1, 367G-T AND X-linked hereditary motor and sensory neuropathy

    Type: Variation

    Species: human

  17. NM_000292.2(PHKA2):c.565A>G (p.Lys189Glu) AND Glycogen storage disease IXa2

    Type: Variation

    Species: human

  18. NM_000202.5(IDS):c.[1464G>T,1466G>C] AND Mucopolysaccharidosis, MPS-II

    Type: Variation

    Species: human

  19. NM_001169122.1(AFF2):c.-460_-458GCC(6_25) AND FRAXE

    Type: Variation

    Species: human

  20. NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg) AND Colorblindness, partial, deutan series

    Type: Variation

    Species: human


Displaying 20 of 209,107 results for " "