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Displaying 20 of 209,107 results for " "
  1. NM_000133.3(F9):c.1058T>C (p.Val353Ala) AND Hereditary factor IX deficiency disease

    Type: Variation

    Species: human

  2. NM_152692.4(C1GALT1C1):c.393T>A (p.Asp131Glu) AND Polyagglutinable erythrocyte syndrome

    Type: Variation

    Species: human

  3. NM_000266.3(NDP):c.131A>G (p.Tyr44Cys) AND Atrophia bulborum hereditaria

    Type: Variation

    Species: human

  4. FAM58A, IVS4, G-A, -1 AND STAR syndrome

    Type: Variation

    Species: human

  5. NM_003916.4(AP1S2):c.288+5G>A AND Pettigrew syndrome

    Type: Variation

    Species: human

  6. NM_000054.4(AVPR2):c.607C>T (p.Arg203Cys) AND Nephrogenic diabetes insipidus, X-linked

    Type: Variation

    Species: human

  7. NM_000444.4(PHEX):c.[755T>C;759G>A] AND Familial X-linked hypophosphatemic vitamin D refractory rickets

    Type: Variation

    Species: human

  8. NM_000169.2(GLA):c.58G>C (p.Ala20Pro) AND Fabry disease, cardiac variant

    Type: Variation

    Species: human

  9. F9, 17747G-A AND Hereditary factor IX deficiency disease

    Type: Variation

    Species: human

  10. PHEX, A-G, NT-429 AND Familial X-linked hypophosphatemic vitamin D refractory rickets

    Type: Variation

    Species: human

  11. NM_000169.2(GLA):c.888G>A (p.Met296Ile) AND Fabry disease, cardiac variant

    Type: Variation

    Species: human

  12. NM_203473.2(PORCN):c.178G>A (p.Gly60Arg) AND Focal dermal hypoplasia

    Type: Variation

    Species: human

  13. NM_194277.2(FRMD7):c.252G>A (p.Val84=) AND Infantile nystagmus, X-linked

    Type: Variation

    Species: human

  14. NM_005765.2(ATP6AP2):c.321C>T (p.Asp107=) AND Mental retardation, X-linked, syndromic, Hedera type

    Type: Variation

    Species: human

  15. NM_014467.2(SRPX2):c.980A>G (p.Asn327Ser) AND Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked

    Type: Variation

    Species: human

  16. NM_001008222.2(ZDHHC9):c.442C>T (p.Arg148Trp) AND Mental retardation, X-linked, syndromic, raymond type

    Type: Variation

    Species: human

  17. NM_000266.3(NDP):c.125A>G (p.His42Arg) AND Exudative vitreoretinopathy, X-linked

    Type: Variation

    Species: human

  18. NM_033290.3(MID1):c.343G>T (p.Glu115Ter) AND Opitz-Frias syndrome

    Type: Variation

    Species: human

  19. BCOR, 60-KB DEL AND Oculofaciocardiodental syndrome

    Type: Variation

    Species: human

  20. NM_000054.4(AVPR2):c.1009C>T (p.Arg337Ter) AND Nephrogenic diabetes insipidus, X-linked

    Type: Variation

    Species: human


Displaying 20 of 209,107 results for " "