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Displaying 20 of 209,107 results for " "
  1. NM_000284.3(PDHA1):c.1073_1092del20 (p.Glu358Glyfs) AND Pyruvate dehydrogenase E1-alpha deficiency

    Type: Variation

    Species: human

  2. NM_000276.3(OCRL):c.2530C>T (p.Arg844Ter) AND Lowe syndrome

    Type: Variation

    Species: human

  3. NM_000284.3(PDHA1):c.727T>A (p.Tyr243Asn) AND Pyruvate dehydrogenase E1-alpha deficiency

    Type: Variation

    Species: human

  4. NM_000284.3(PDHA1):c.863G>A (p.Arg288His) AND Pyruvate dehydrogenase E1-alpha deficiency

    Type: Variation

    Species: human

  5. BCOR, IVS8AS, G-T, -1 AND Oculofaciocardiodental syndrome

    Type: Variation

    Species: human

  6. FTSJ1, EX9DEL AND Mental retardation 9, X-linked

    Type: Variation

    Species: human

  7. SH2D1A, 163C-T AND Lymphoproliferative syndrome 1, X-linked

    Type: Variation

    Species: human

  8. NM_000397.3(CYBB):c.252G>A (p.Ala84=) AND Chronic granulomatous disease, X-linked

    Type: Variation

    Species: human

  9. NM_000284.3(PDHA1):c.787C>G (p.Arg263Gly) AND Pyruvate dehydrogenase E1-alpha deficiency

    Type: Variation

    Species: human

  10. CYBB, EX12DEL AND Chronic granulomatous disease, X-linked

    Type: Variation

    Species: human

  11. NM_000284.3(PDHA1):c.943G>A (p.Asp315Asn) AND Pyruvate dehydrogenase E1-alpha deficiency

    Type: Variation

    Species: human

  12. NM_000054.4(AVPR2):c.541C>T (p.Arg181Cys) AND Nephrogenic diabetes insipidus, X-linked

    Type: Variation

    Species: human

  13. NM_001205019.1(GK):c.880A>G (p.Asn294Asp) AND Deficiency of glycerol kinase

    Type: Variation

    Species: human

  14. FANCB, 1-BP INS, 1838T AND Fanconi anemia, complementation group B

    Type: Variation

    Species: human

  15. NG_008178.1:g.(71738_72262)_(72384_72493)del AND Deficiency of glycerol kinase

    Type: Variation

    Species: human

  16. SH2D1A, IVS2AS, G-T, -1 AND Lymphoproliferative syndrome 1, X-linked

    Type: Variation

    Species: human

  17. NM_000475.4(NR0B1):c.800G>C (p.Arg267Pro) AND Congenital adrenal hypoplasia, X-linked

    Type: Variation

    Species: human

  18. NR0B1, 2-BP DEL, 1610AG, AND 1-BP INS AND Congenital adrenal hypoplasia, X-linked

    Type: Variation

    Species: human

  19. NM_000531.5(OTC):c.259G>A (p.Glu87Lys) AND Ornithine carbamoyltransferase deficiency

    Type: Variation

    Species: human

  20. NM_001399.4(EDA):c.1072C>G (p.Gln358Glu) AND Tooth agenesis, selective, X-linked, 1

    Type: Variation

    Species: human


Displaying 20 of 209,107 results for " "