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Displaying 20 of 209,107 results for " "
  1. NM_001184880.1(PCDH19):c.1322T>A (p.Val441Glu) AND Early infantile epileptic encephalopathy 9

    Type: Variation

    Species: human

  2. NR0B1, 1-BP DEL, 501A AND Congenital adrenal hypoplasia, X-linked

    Type: Variation

    Species: human

  3. NR0B1, 4-BP DEL, NT1464 AND Congenital adrenal hypoplasia, X-linked

    Type: Variation

    Species: human

  4. EDA, 1-BP DEL, EX6 AND Hypohidrotic X-linked ectodermal dysplasia

    Type: Variation

    Species: human

  5. NM_001184880.1(PCDH19):c.253C>T (p.Gln85Ter) AND Early infantile epileptic encephalopathy 9

    Type: Variation

    Species: human

  6. NM_000531.5(OTC):c.386G>A (p.Arg129His) AND Ornithine carbamoyltransferase deficiency

    Type: Variation

    Species: human

  7. NM_000531.5(OTC):c.717+2T>C AND Ornithine carbamoyltransferase deficiency

    Type: Variation

    Species: human

  8. NR0B1, 1-BP DEL AND Congenital adrenal hypoplasia, X-linked

    Type: Variation

    Species: human

  9. PCDH19, 1-BP INS, 2030T AND Early infantile epileptic encephalopathy 9

    Type: Variation

    Species: human

  10. NLGN4, 1-BP INS, 1186T AND Asperger syndrome X-linked 2

    Type: Variation

    Species: human

  11. OTC, ARG245TRP AND Ornithine carbamoyltransferase deficiency

    Type: Variation

    Species: human

  12. nsv513783 AND Non-syndromic X-linked intellectual disability

    Type: Variation

    Species: human

  13. NM_198270.3(NHS):c.3459delC (p.Leu1154Cysfs) AND Nance-Horan syndrome

    Type: Variation

    Species: human

  14. OTC, 1-BP DEL, 403G AND Ornithine carbamoyltransferase deficiency

    Type: Variation

    Species: human

  15. NM_000475.4(NR0B1):c.1197C>A (p.Tyr399Ter) AND Congenital adrenal hypoplasia, X-linked

    Type: Variation

    Species: human

  16. NM_001399.4(EDA):c.466C>T (p.Arg156Cys) AND Hypohidrotic X-linked ectodermal dysplasia

    Type: Variation

    Species: human

  17. NM_000531.5(OTC):c.332T>C (p.Leu111Pro) AND Ornithine carbamoyltransferase deficiency

    Type: Variation

    Species: human

  18. NM_000377.2(WAS):c.134C>T (p.Thr45Met) AND Thrombocytopenia, X-linked

    Type: Variation

    Species: human

  19. NM_001128834.2(PLP1):c.409C>T (p.Arg137Trp) AND Spastic paraplegia 2

    Type: Variation

    Species: human

  20. NM_001128834.2(PLP1):c.725C>T (p.Ala242Val) AND Pelizaeus-merzbacher disease, connatal

    Type: Variation

    Species: human


Displaying 20 of 209,107 results for " "